Resource

Id: gene_properties/gene_sets/gene2phenotype
Type: gene_set_collection
Version: 0
Summary:
Description:
Labels:

Gene set ID: gene2phenotype

Statistics:

Number of gene sets: 3252

Number of unique genes: 2881

Count of genes per gene set
gene2phenotype
Count of gene sets per gene
gene2phenotype
Gene Set Gene Count Description
AUTOSOMAL_RECESSIVE_INTELLECTUAL_DEVELOPMENTAL_DISORDER 43 AUTOSOMAL_RECESSIVE_INTELLECTUAL_DEVELOPMENTAL_DISORDER
INTELLECTUAL_DISABILITY 41 INTELLECTUAL_DISABILITY
Retinitis_pigmentosa 25 Retinitis_pigmentosa
EPILEPTIC_ENCEPHALOPATHY 13 EPILEPTIC_ENCEPHALOPATHY
LEBER_CONGENITAL_AMAUROSIS 9 LEBER_CONGENITAL_AMAUROSIS
CONGENITAL_DISORDERS_OF_GLYCOSYLATION 8 CONGENITAL_DISORDERS_OF_GLYCOSYLATION
SYNDROMIC_INTELLECTUAL_DISABILITY 8 SYNDROMIC_INTELLECTUAL_DISABILITY
AUTISM 8 AUTISM
Retinal_dystrophy 8 Retinal_dystrophy
Congenital_cataract 8 Congenital_cataract
LEIGH_SYNDROME 7 LEIGH_SYNDROME
PRIMARY_CILIARY_DYSKINESIA 7 PRIMARY_CILIARY_DYSKINESIA
Epilepsy_and_intellectual_disability 7 Epilepsy_and_intellectual_disability
MITOCHONDRIAL_COMPLEX_IV_DEFICIENCY 6 MITOCHONDRIAL_COMPLEX_IV_DEFICIENCY
JOUBERT_SYNDROME 6 JOUBERT_SYNDROME
HETEROTAXY_SYNDROME 5 HETEROTAXY_SYNDROME
MITOCHONDRIAL_COMPLEX_I_DEFICIENCY 5 MITOCHONDRIAL_COMPLEX_I_DEFICIENCY
Cone-rod_dystrophy 5 Cone-rod_dystrophy
Macular_dystrophy 5 Macular_dystrophy
CARDIOFACIOCUTANEOUS_SYNDROME 4 CARDIOFACIOCUTANEOUS_SYNDROME
Pheochromocytoma 4 Pheochromocytoma
CONSTITUTIONAL_MISMATCH_REPAIR_DEFICIENCY_SYNDROME 4 CONSTITUTIONAL_MISMATCH_REPAIR_DEFICIENCY_SYNDROME
Breast_cancer,_susceptibility_to 4 Breast_cancer,_susceptibility_to
Dyskeratosis_Congenita 4 Dyskeratosis_Congenita
MITOCHONDRIAL_RESPIRATORY_CHAIN_COMPLEX_I_DEFICIENCY 4 MITOCHONDRIAL_RESPIRATORY_CHAIN_COMPLEX_I_DEFICIENCY
HOLOPROSENCEPHALY 4 HOLOPROSENCEPHALY
LEBER_HEREDITARY_OPTIC_NEUROPATHY 4 LEBER_HEREDITARY_OPTIC_NEUROPATHY
SCHWANNOMATOSIS 3 SCHWANNOMATOSIS
ZELLWEGER_SYNDROME 3 ZELLWEGER_SYNDROME
LOEYS-DIETZ_SYNDROME 3 LOEYS-DIETZ_SYNDROME
Monilethrix 3 Monilethrix
Omenn_syndrome 3 Omenn_syndrome
Lynch_syndrome 3 Lynch_syndrome
Wilms_tumour 3 Wilms_tumour
Dyskeratosis_congenita,_autosomal_recessive 3 Dyskeratosis_congenita,_autosomal_recessive
AURICULOCONDYLAR_SYNDROME 3 AURICULOCONDYLAR_SYNDROME
PRIMORDIAL_DWARFISM 3 PRIMORDIAL_DWARFISM
COENZYME_Q10_DEFICIENCY 3 COENZYME_Q10_DEFICIENCY
FRASER_SYNDROME 3 FRASER_SYNDROME
PONTOCEREBELLAR_HYPOPLASIA_TYPE_2_AND_TYPE_4 3 PONTOCEREBELLAR_HYPOPLASIA_TYPE_2_AND_TYPE_4
MAPLE_SYRUP_URINE_DISEASE 3 MAPLE_SYRUP_URINE_DISEASE
Neurodevelopmental_Disorder 3 Neurodevelopmental_Disorder
Syndromic_congenital_cataract 3 Syndromic_congenital_cataract
Ciliopathy_syndrome 3 Ciliopathy_syndrome
ALPORT_SYNDROME_AUTOSOMAL_RECESSIVE 2 ALPORT_SYNDROME_AUTOSOMAL_RECESSIVE
ACROFACIAL_DYSOSTOSIS_WEYERS_TYPE 2 ACROFACIAL_DYSOSTOSIS_WEYERS_TYPE
VAN_DER_WOUDE_SYNDROME 2 VAN_DER_WOUDE_SYNDROME
CONSTITUTIONAL_MISMATCH_REPAIR_DEFICIENCY_SYNDROME_(CCMRD) 2 CONSTITUTIONAL_MISMATCH_REPAIR_DEFICIENCY_SYNDROME_(CCMRD)
MUIR-TORRE_SYNDROME 2 MUIR-TORRE_SYNDROME
CLEFT_LIP_+/-_CLEFT_PALATE 2 CLEFT_LIP_+/-_CLEFT_PALATE
BECKWITH-WIEDEMANN_SYNDROME 2 BECKWITH-WIEDEMANN_SYNDROME
PROPIONIC_ACIDEMIA 2 PROPIONIC_ACIDEMIA
ACRODYSOSTOSIS 2 ACRODYSOSTOSIS
PROTEUS_SYNDROME 2 PROTEUS_SYNDROME
Classical_Ehlers_Danlos_syndrome 2 Classical_Ehlers_Danlos_syndrome
Epidermodysplasia_verruciformis 2 Epidermodysplasia_verruciformis
Gorlin_syndrome 2 Gorlin_syndrome
Hereditary_haemorrhagic_telangiectasia 2 Hereditary_haemorrhagic_telangiectasia
Sitosterolemia 2 Sitosterolemia
Waardenburg_syndrome_type_IV 2 Waardenburg_syndrome_type_IV
White_sponge_naevus 2 White_sponge_naevus
WINCHESTER_SYNDROME 2 WINCHESTER_SYNDROME
Epidermolysis_Bullosa_Simplex_localised_(Weber_Cockayne) 2 Epidermolysis_Bullosa_Simplex_localised_(Weber_Cockayne)
Epidermolysis_Bullosa_Simplex_generalised_intermediate_(Köbner) 2 Epidermolysis_Bullosa_Simplex_generalised_intermediate_(Köbner)
Epidermolysis_Bullosa_Simplex_generalised_severe_(Dowling_-_Meara) 2 Epidermolysis_Bullosa_Simplex_generalised_severe_(Dowling_-_Meara)
Epidermolysis_Bullosa_Junctional_(lethal_Herlitz) 2 Epidermolysis_Bullosa_Junctional_(lethal_Herlitz)
Hypertriglycidaemia,_familial 2 Hypertriglycidaemia,_familial
Ichthyosiform_erythroderma,_bullous 2 Ichthyosiform_erythroderma,_bullous
Ichthyosis,_cyclic_with_epidermolytic_hyperkeratosis 2 Ichthyosis,_cyclic_with_epidermolytic_hyperkeratosis
Pachyonychia_congenita_1_Jadassohn-Lewandowsky 2 Pachyonychia_congenita_1_Jadassohn-Lewandowsky
Pachyonychia_congenita_2_Jackson-Lawler 2 Pachyonychia_congenita_2_Jackson-Lawler
PPK_Vorner-Unna-Thost_(non-epidermolytic) 2 PPK_Vorner-Unna-Thost_(non-epidermolytic)
PPK_(striate) 2 PPK_(striate)
Piebaldism 2 Piebaldism
Waardenburg_syndrome_type_IV_(biallelic,_loss_of_function) 2 Waardenburg_syndrome_type_IV_(biallelic,_loss_of_function)
PHEOCHROMOCYTOMA,_SUSCEPTIBILITY_TO 2 PHEOCHROMOCYTOMA,_SUSCEPTIBILITY_TO
POLYMERASE_PROOFREADING-ASSOCIATED_POLYPOSIS 2 POLYMERASE_PROOFREADING-ASSOCIATED_POLYPOSIS
NONSPECIFIC_SEVERE_ID 2 NONSPECIFIC_SEVERE_ID
SPLIT_HAND_AND_FOOT_MALFORMATION 2 SPLIT_HAND_AND_FOOT_MALFORMATION
BARAITSER-WINTER_SYNDROME 2 BARAITSER-WINTER_SYNDROME
JOUBERT_SYNDROME_AND_RELATED_DISORDERS 2 JOUBERT_SYNDROME_AND_RELATED_DISORDERS
COFFIN_SIRIS 2 COFFIN_SIRIS
HEREDITARY_SPASTIC_PARAPLEGIA 2 HEREDITARY_SPASTIC_PARAPLEGIA
AUTOSOMAL-DOMINANT_ROBINOW_SYNDROME 2 AUTOSOMAL-DOMINANT_ROBINOW_SYNDROME
PRIMARY_MICROCEPHALY 2 PRIMARY_MICROCEPHALY
MOLYBDENUM_COFACTOR_DEFICIENCY 2 MOLYBDENUM_COFACTOR_DEFICIENCY
MOEBIUS_SYNDROME 2 MOEBIUS_SYNDROME
PONTOCEREBELLAR_HYPOPLASIA_TYPE_1 2 PONTOCEREBELLAR_HYPOPLASIA_TYPE_1
PRIMARY_AUTOSOMAL_RECESSIVE_MICROCEPHALY 2 PRIMARY_AUTOSOMAL_RECESSIVE_MICROCEPHALY
HYPOGONADOTROPIC_HYPOGONADISM 2 HYPOGONADOTROPIC_HYPOGONADISM
PONTOCEREBELLAR_HYPOPLASIA 2 PONTOCEREBELLAR_HYPOPLASIA
PERRAULT_SYNDROME 2 PERRAULT_SYNDROME
SPASTIC_ATAXIA,_CHARLEVOIX-SAGUENAY_TYPE 2 SPASTIC_ATAXIA,_CHARLEVOIX-SAGUENAY_TYPE
EHMT1-LIKE_INTELLECTUAL_DISABILITY 2 EHMT1-LIKE_INTELLECTUAL_DISABILITY
BARTTER_SYNDROME_TYPE_4B 2 BARTTER_SYNDROME_TYPE_4B
GLYCINE_ENCEPHALOPATHY 2 GLYCINE_ENCEPHALOPATHY
CONGENITAL_MUSCULAR_DYSTROPHY 2 CONGENITAL_MUSCULAR_DYSTROPHY
JUVENILE_MYOCLONIC_EPILEPSY 2 JUVENILE_MYOCLONIC_EPILEPSY
COMPLEX_HEREDITARY_SPASTIC_PARAPLEGIA 2 COMPLEX_HEREDITARY_SPASTIC_PARAPLEGIA
FRONTOMETAPHYSEAL_DYSPLASIA 2 FRONTOMETAPHYSEAL_DYSPLASIA
EARLY_ONSET_EPILEPTIC_ENCEPHALOPATHY 2 EARLY_ONSET_EPILEPTIC_ENCEPHALOPATHY
OSTEOGENESIS_IMPERFECTA 2 OSTEOGENESIS_IMPERFECTA
ADAMS_OLIVER_SYNDROME 2 ADAMS_OLIVER_SYNDROME
ANTERIOR_SEGMENT_MESENCHYMAL_DYSGENESIS 2 ANTERIOR_SEGMENT_MESENCHYMAL_DYSGENESIS
UROFACIAL_SYNDROME 2 UROFACIAL_SYNDROME
PRIMARY_CONGENITAL_GLAUCOMA_TYPE_3A 2 PRIMARY_CONGENITAL_GLAUCOMA_TYPE_3A
CONGENITAL_HEART_DISEASE 2 CONGENITAL_HEART_DISEASE
ACHROMATOPSIA 2 ACHROMATOPSIA
TRICHOTHIODYSTROPHY_PHOTOSENSITIVE 2 TRICHOTHIODYSTROPHY_PHOTOSENSITIVE
CORNELIA_DE_LANGE-LIKE_SYNDROME 2 CORNELIA_DE_LANGE-LIKE_SYNDROME
ZIMMERMANN-LABAND_SYNDROME 2 ZIMMERMANN-LABAND_SYNDROME
INFANTILE_EPILEPTIC_ENCEPHALOPATHY 2 INFANTILE_EPILEPTIC_ENCEPHALOPATHY
Circumferential_Skin_Creases_Kunze_Type 2 Circumferential_Skin_Creases_Kunze_Type
Radioulnar_Synostosis_with_Amegakaryocytic_Thrombocytopenia 2 Radioulnar_Synostosis_with_Amegakaryocytic_Thrombocytopenia
CONGENITAL_DISORDER_OF_GLYCOSYLATION 2 CONGENITAL_DISORDER_OF_GLYCOSYLATION
Prenatal_Spinal_Muscular_Atrophy_and_Congenital_Bone_Fractures 2 Prenatal_Spinal_Muscular_Atrophy_and_Congenital_Bone_Fractures
Congenital_Hemangioma 2 Congenital_Hemangioma
Syndromic_INTELLECTUAL_DISABILITY_with_or_without_congenital_heart_disease 2 Syndromic_INTELLECTUAL_DISABILITY_with_or_without_congenital_heart_disease
Microcephaly_with_short_stature 2 Microcephaly_with_short_stature
Glycosylphosphatidylinositol_deficiency 2 Glycosylphosphatidylinositol_deficiency
Anterior_Segment_Dysgenesis 2 Anterior_Segment_Dysgenesis
Blepharo-cheiro-dontic_syndrome 2 Blepharo-cheiro-dontic_syndrome
Weaver-like_overgrowth_syndrome 2 Weaver-like_overgrowth_syndrome
Autosomal-Recessive_Intellectual_Disability_and_Microcephaly 2 Autosomal-Recessive_Intellectual_Disability_and_Microcephaly
Non-syndromic_craniosynostosis 2 Non-syndromic_craniosynostosis
Noonan_syndrome 2 Noonan_syndrome
Developmental_and_Epileptic_Encephalopathy 2 Developmental_and_Epileptic_Encephalopathy
Bloom_Syndrome_like_Disorder 2 Bloom_Syndrome_like_Disorder
Intellectual_Disability_and_Central_Nervous_System_anomalies 2 Intellectual_Disability_and_Central_Nervous_System_anomalies
EPILEPTIC_ENCEPHALOPATHY,_EARLY_INFANTILE 2 EPILEPTIC_ENCEPHALOPATHY,_EARLY_INFANTILE
Meesmann_corneal_dystrophy 2 Meesmann_corneal_dystrophy
Optic_atrophy 2 Optic_atrophy
DOMINANT_LATE-ONSET_FUCHS_CORNEAL_DYSTROPHY 2 DOMINANT_LATE-ONSET_FUCHS_CORNEAL_DYSTROPHY
Albinism,_oculocutaneous,_type_VII 2 Albinism,_oculocutaneous,_type_VII
Blue_cone_monochromacy 2 Blue_cone_monochromacy
Bradyopsia 2 Bradyopsia
Cataract 2 Cataract
Non-syndromic_retinal_degeneration 2 Non-syndromic_retinal_degeneration
ACHALASIA-ADDISONIANISM-ALACRIMA_SYNDROME 1 ACHALASIA-ADDISONIANISM-ALACRIMA_SYNDROME
ARTERIAL_CALCIFICATION,_GENERALIZED,_OF_INFANCY,_2 1 ARTERIAL_CALCIFICATION,_GENERALIZED,_OF_INFANCY,_2
ADRENOLEUKODYSTROPHY,_X-LINKED 1 ADRENOLEUKODYSTROPHY,_X-LINKED
FIBRODYSPLASIA_OSSIFICANS_PROGRESSIVA 1 FIBRODYSPLASIA_OSSIFICANS_PROGRESSIVA
ASPARTYLGLUCOSAMINURIA 1 ASPARTYLGLUCOSAMINURIA
HYPEROXALURIA,_PRIMARY,_TYPE_1 1 HYPEROXALURIA,_PRIMARY,_TYPE_1
AUTOIMMUNE_POLYENDOCRINOPATHY_SYNDROME_TYPE_1 1 AUTOIMMUNE_POLYENDOCRINOPATHY_SYNDROME_TYPE_1
ALSTROM_SYNDROME 1 ALSTROM_SYNDROME
DESMOID_DISEASE,_HEREDITARY 1 DESMOID_DISEASE,_HEREDITARY
ADENOMATOUS_POLYPOSIS_COLI 1 ADENOMATOUS_POLYPOSIS_COLI
ANDROGEN_INSENSITIVITY_SYNDROME 1 ANDROGEN_INSENSITIVITY_SYNDROME
SPINAL_AND_BULBAR_MUSCULAR_ATROPHY 1 SPINAL_AND_BULBAR_MUSCULAR_ATROPHY
ARSL-related_chondrodysplasia_punctata 1 ARSL-related_chondrodysplasia_punctata
ARGININOSUCCINATE_LYASE_DEFICIENCY 1 ARGININOSUCCINATE_LYASE_DEFICIENCY
ATAXIA-TELANGIECTASIA 1 ATAXIA-TELANGIECTASIA
SPINAL_MUSCULAR_ATROPHY,_DISTAL,_X-LINKED_3 1 SPINAL_MUSCULAR_ATROPHY,_DISTAL,_X-LINKED_3
MENKES_DISEASE 1 MENKES_DISEASE
LEOPARD_SYNDROME_TYPE_3 1 LEOPARD_SYNDROME_TYPE_3
NOONAN_SYNDROME_TYPE_7 1 NOONAN_SYNDROME_TYPE_7
FANCONI_ANEMIA_COMPLEMENTATION_GROUP_D_TYPE_1 1 FANCONI_ANEMIA_COMPLEMENTATION_GROUP_D_TYPE_1
BRCA2_associated_CANCER 1 BRCA2_associated_CANCER
BIOTINIDASE_DEFICIENCY 1 BIOTINIDASE_DEFICIENCY
CBS-related_homocystinuria_due_to_cystathionine_beta-synthase_deficiency 1 CBS-related_homocystinuria_due_to_cystathionine_beta-synthase_deficiency
NEPHROPATHY_WITH_PRETIBIAL_EPIDERMOLYSIS_BULLOSA_AND_DEAFNESS 1 NEPHROPATHY_WITH_PRETIBIAL_EPIDERMOLYSIS_BULLOSA_AND_DEAFNESS
EEM_SYNDROME 1 EEM_SYNDROME
MELANOMA,_CUTANEOUS_MALIGNANT,_3 1 MELANOMA,_CUTANEOUS_MALIGNANT,_3
MELANOMA,_CUTANEOUS_MALIGNANT,_2 1 MELANOMA,_CUTANEOUS_MALIGNANT,_2
EHLERS-DANLOS_SYNDROME,_CLASSIC_TYPE,_COL1A1-RELATED 1 EHLERS-DANLOS_SYNDROME,_CLASSIC_TYPE,_COL1A1-RELATED
CAFFEY_DISEASE 1 CAFFEY_DISEASE
COL1A1/2-RELATED_OSTEOGENESIS_IMPERFECTA 1 COL1A1/2-RELATED_OSTEOGENESIS_IMPERFECTA
EHLERS-DANLOS_SYNDROME_TYPE_VIIA 1 EHLERS-DANLOS_SYNDROME_TYPE_VIIA
OSTEOGENESIS_IMPERFECTA_TYPE_I 1 OSTEOGENESIS_IMPERFECTA_TYPE_I
OSTEOGENESIS_IMPERFECTA_TYPE_IIA 1 OSTEOGENESIS_IMPERFECTA_TYPE_IIA
OSTEOGENESIS_IMPERFECTA_TYPE_III 1 OSTEOGENESIS_IMPERFECTA_TYPE_III
EHLERS-DANLOS_SYNDROME_TYPE_4 1 EHLERS-DANLOS_SYNDROME_TYPE_4
ALPORT_SYNDROME_AUTOSOMAL_DOMINANT 1 ALPORT_SYNDROME_AUTOSOMAL_DOMINANT
CREBBP_intellectual_disability_without_typical_RTS_features 1 CREBBP_intellectual_disability_without_typical_RTS_features
CREBBP-related_Rubinstein-Taybi_syndrome 1 CREBBP-related_Rubinstein-Taybi_syndrome
CTNS-related_nephropathic_cystinosis 1 CTNS-related_nephropathic_cystinosis
XERODERMA_PIGMENTOSUM,_GROUP_E,_DDB-NEGATIVE_SUBTYPE 1 XERODERMA_PIGMENTOSUM,_GROUP_E,_DDB-NEGATIVE_SUBTYPE
SMITH-LEMLI-OPITZ_SYNDROME 1 SMITH-LEMLI-OPITZ_SYNDROME
DKC1-related_dyskeratosis_congenita 1 DKC1-related_dyskeratosis_congenita
DYSTROPHIA_MYOTONICA_TYPE_1 1 DYSTROPHIA_MYOTONICA_TYPE_1
SEVERE_DERMATITIS,_MULTIPLE_ALLERGIES_AND_METABOLIC_WASTING 1 SEVERE_DERMATITIS,_MULTIPLE_ALLERGIES_AND_METABOLIC_WASTING
CHONDRODYSPLASIA_PUNCTATA_2,_X-LINKED 1 CHONDRODYSPLASIA_PUNCTATA_2,_X-LINKED
ECTODERMAL_DYSPLASIA_TYPE_1 1 ECTODERMAL_DYSPLASIA_TYPE_1
TOOTH_AGENESIS_SELECTIVE_X-LINKED_TYPE_1 1 TOOTH_AGENESIS_SELECTIVE_X-LINKED_TYPE_1
ABCD_SYNDROME 1 ABCD_SYNDROME
CRANIOFRONTONASAL_SYNDROME 1 CRANIOFRONTONASAL_SYNDROME
ELN-RELATED_CUTIS_LAXA 1 ELN-RELATED_CUTIS_LAXA
RUBINSTEIN-TAYBI_SYNDROME_TYPE_2 1 RUBINSTEIN-TAYBI_SYNDROME_TYPE_2
CEREBRO-OCULO-FACIO-SKELETAL_SYNDROME_TYPE_2 1 CEREBRO-OCULO-FACIO-SKELETAL_SYNDROME_TYPE_2
ERCC3-related_xeroderma_pigmentosum,_group_B 1 ERCC3-related_xeroderma_pigmentosum,_group_B
COCKAYNE_SYNDROME_TYPE_B 1 COCKAYNE_SYNDROME_TYPE_B
COCKAYNE_SYNDROME_TYPE_A 1 COCKAYNE_SYNDROME_TYPE_A
ROBERTS_SYNDROME 1 ROBERTS_SYNDROME
FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_A 1 FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_A
FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_C 1 FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_C
FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_D2 1 FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_D2
FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_E 1 FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_E
FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_F 1 FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_F
FBN1-related_isolated_ectopia_lentis 1 FBN1-related_isolated_ectopia_lentis
FBN1-related_Marfan_syndrome 1 FBN1-related_Marfan_syndrome
FBN1-related_Weill-Marchesani_syndrome 1 FBN1-related_Weill-Marchesani_syndrome
FGFR2-related_Pfeiffer_syndrome 1 FGFR2-related_Pfeiffer_syndrome
APERT_SYNDROME 1 APERT_SYNDROME
BEARE-STEVENSON_CUTIS_GYRATA_SYNDROME 1 BEARE-STEVENSON_CUTIS_GYRATA_SYNDROME
CROUZON_SYNDROME 1 CROUZON_SYNDROME
JACKSON-WEISS_SYNDROME 1 JACKSON-WEISS_SYNDROME
FGFR2-related_lacrimo-auriculo-dento-digital_syndrome 1 FGFR2-related_lacrimo-auriculo-dento-digital_syndrome
FUMARASE_DEFICIENCY 1 FUMARASE_DEFICIENCY
LEIOMYOMATOSIS_AND_RENAL_CELL_CANCER 1 LEIOMYOMATOSIS_AND_RENAL_CELL_CANCER
BIRT-HOGG-DUBE_SYNDROME 1 BIRT-HOGG-DUBE_SYNDROME
ICHTHYOSIS_VULGARIS 1 ICHTHYOSIS_VULGARIS
MELNICK-NEEDLES_SYNDROME 1 MELNICK-NEEDLES_SYNDROME
FLNA-related_otopalatodigital_syndrome 1 FLNA-related_otopalatodigital_syndrome
PERIVENTRICULAR_NODULAR_HETEROTOPIA_TYPE_1 1 PERIVENTRICULAR_NODULAR_HETEROTOPIA_TYPE_1
TERMINAL_OSSEOUS_DYSPLASIA 1 TERMINAL_OSSEOUS_DYSPLASIA
MILROY_DISEASE 1 MILROY_DISEASE
LYMPHEDEMA-DISTICHIASIS_SYNDROME 1 LYMPHEDEMA-DISTICHIASIS_SYNDROME
IPEX_SYNDROME 1 IPEX_SYNDROME
FUCOSIDOSIS 1 FUCOSIDOSIS
GAUCHER_DISEASE_PERINATAL_LETHAL 1 GAUCHER_DISEASE_PERINATAL_LETHAL
GJA1-related_oculodentodigital_dysplasia 1 GJA1-related_oculodentodigital_dysplasia
HALLERMANN-STREIFF_SYNDROME 1 HALLERMANN-STREIFF_SYNDROME
HYPOPLASTIC_LEFT_HEART_SYNDROME 1 HYPOPLASTIC_LEFT_HEART_SYNDROME
GJB2-related_knuckle_pads,_leuconychia_and_sensorineural_deafness 1 GJB2-related_knuckle_pads,_leuconychia_and_sensorineural_deafness
DEAFNESS_AUTOSOMAL_RECESSIVE_TYPE_1A 1 DEAFNESS_AUTOSOMAL_RECESSIVE_TYPE_1A
ICHTHYOSIS_HYSTRIX-LIKE_WITH_DEAFNESS_SYNDROME 1 ICHTHYOSIS_HYSTRIX-LIKE_WITH_DEAFNESS_SYNDROME
PALMOPLANTAR_KERATODERMA_WITH_DEAFNESS 1 PALMOPLANTAR_KERATODERMA_WITH_DEAFNESS
GJB2-related_Vohwinkel_syndrome 1 GJB2-related_Vohwinkel_syndrome
DEAFNESS,_AUTOSOMAL_RECESSIVE 1 DEAFNESS,_AUTOSOMAL_RECESSIVE
DEAFNESS_AUTOSOMAL_DOMINANT_TYPE_2B 1 DEAFNESS_AUTOSOMAL_DOMINANT_TYPE_2B
ERYTHROKERATODERMIA_VARIABILIS_ET_PROGRESSIVA 1 ERYTHROKERATODERMIA_VARIABILIS_ET_PROGRESSIVA
DEAFNESS_AUTOSOMAL_RECESSIVE_TYPE_1B 1 DEAFNESS_AUTOSOMAL_RECESSIVE_TYPE_1B
GM1-GANGLIOSIDOSIS_TYPE_3 1 GM1-GANGLIOSIDOSIS_TYPE_3
GLOMUVENOUS_MALFORMATIONS 1 GLOMUVENOUS_MALFORMATIONS
MUCOLIPIDOSIS_TYPE_III_COMPLEMENTATION_GROUP_A 1 MUCOLIPIDOSIS_TYPE_III_COMPLEMENTATION_GROUP_A
MUCOLIPIDOSIS_TYPE_III_COMPLEMENTATION_GROUP_C 1 MUCOLIPIDOSIS_TYPE_III_COMPLEMENTATION_GROUP_C
SIMPSON-GOLABI-BEHMEL_SYNDROME,_TYPE_1 1 SIMPSON-GOLABI-BEHMEL_SYNDROME,_TYPE_1
HCCS-related_linear_skin_defects_with_microphthalmia 1 HCCS-related_linear_skin_defects_with_microphthalmia
HOLOCARBOXYLASE_SYNTHETASE_DEFICIENCY 1 HOLOCARBOXYLASE_SYNTHETASE_DEFICIENCY
HPS1-related_Hermansky-Pudlak_syndrome 1 HPS1-related_Hermansky-Pudlak_syndrome
ALOPECIA_UNIVERSALIS 1 ALOPECIA_UNIVERSALIS
ATRICHIA_WITH_PAPULAR_LESIONS 1 ATRICHIA_WITH_PAPULAR_LESIONS
CONGENITAL_MYOPATHY_WITH_EXCESS_OF_MUSCLE_SPINDLES 1 CONGENITAL_MYOPATHY_WITH_EXCESS_OF_MUSCLE_SPINDLES
COSTELLO_SYNDROME 1 COSTELLO_SYNDROME
POPLITEAL_PTERYGIUM_SYNDROME 1 POPLITEAL_PTERYGIUM_SYNDROME
EPIDERMOLYSIS_BULLOSA_WITH_PYLORIC_ATRESIA 1 EPIDERMOLYSIS_BULLOSA_WITH_PYLORIC_ATRESIA
FAMILIAL_GIST_(GASTRO-INTESTINAL_STROMAL_TUMOURS) 1 FAMILIAL_GIST_(GASTRO-INTESTINAL_STROMAL_TUMOURS)
HUMAN_PIEBALDISM 1 HUMAN_PIEBALDISM
NOONAN_SYNDROME_TYPE_3 1 NOONAN_SYNDROME_TYPE_3
COBBLESTONE_BRAIN_MALFORMATION_WITHOUT_MUSCULAR_OR_OCULAR_ABNORMALITIES 1 COBBLESTONE_BRAIN_MALFORMATION_WITHOUT_MUSCULAR_OR_OCULAR_ABNORMALITIES
BUSCHKE-OLLENDORFF_SYNDROME 1 BUSCHKE-OLLENDORFF_SYNDROME
LIG4_SYNDROME 1 LIG4_SYNDROME
CHARCOT-MARIE-TOOTH_DISEASE_TYPE_2B1 1 CHARCOT-MARIE-TOOTH_DISEASE_TYPE_2B1
EMERY-DREIFUSS_MUSCULAR_DYSTROPHY_TYPE_2 1 EMERY-DREIFUSS_MUSCULAR_DYSTROPHY_TYPE_2
HEART-HAND_SYNDROME_SLOVENIAN_TYPE 1 HEART-HAND_SYNDROME_SLOVENIAN_TYPE
HUTCHINSON-GILFORD_PROGERIA_SYNDROME 1 HUTCHINSON-GILFORD_PROGERIA_SYNDROME
LETHAL_TIGHT_SKIN_CONTRACTURE_SYNDROME 1 LETHAL_TIGHT_SKIN_CONTRACTURE_SYNDROME
NAIL-PATELLA_SYNDROME 1 NAIL-PATELLA_SYNDROME
CHEDIAK-HIGASHI_SYNDROME 1 CHEDIAK-HIGASHI_SYNDROME
LYSOSOMAL_ALPHA-MANNOSIDOSIS 1 LYSOSOMAL_ALPHA-MANNOSIDOSIS
GLUCOCORTICOID_DEFICIENCY_1 1 GLUCOCORTICOID_DEFICIENCY_1
MULTIPLE_ENDOCRINE_NEOPLASIA_1 1 MULTIPLE_ENDOCRINE_NEOPLASIA_1
Coloboma,_Osteopetrosis,_Microphthalmia,_Macrocephaly,_Albinism,_and_Deafness_(COMMAD) 1 Coloboma,_Osteopetrosis,_Microphthalmia,_Macrocephaly,_Albinism,_and_Deafness_(COMMAD)
TIETZ_SYNDROME 1 TIETZ_SYNDROME
WAARDENBURG_SYNDROME_TYPE_2A 1 WAARDENBURG_SYNDROME_TYPE_2A
CARNEY_COMPLEX_VARIANT 1 CARNEY_COMPLEX_VARIANT
MYH8-related_Trismus-pseudocamptodactyly_syndrome 1 MYH8-related_Trismus-pseudocamptodactyly_syndrome
GRISCELLI_SYNDROME_TYPE_3 1 GRISCELLI_SYNDROME_TYPE_3
KANZAKI_DISEASE 1 KANZAKI_DISEASE
MUCOPOLYSACCHARIDOSIS_TYPE_3B 1 MUCOPOLYSACCHARIDOSIS_TYPE_3B
NEUROFIBROMATOSIS_TYPE_1 1 NEUROFIBROMATOSIS_TYPE_1
CORNELIA_DE_LANGE_SYNDROME_TYPE_1 1 CORNELIA_DE_LANGE_SYNDROME_TYPE_1
INFANTILE_MYOFIBROMATOSIS 1 INFANTILE_MYOFIBROMATOSIS
ACROMESOMELIC_DYSPLASIA_MAROTEAUX_TYPE 1 ACROMESOMELIC_DYSPLASIA_MAROTEAUX_TYPE
SOTOS_SYNDROME 1 SOTOS_SYNDROME
CK_SYNDROME 1 CK_SYNDROME
CONGENITAL_HEMIDYSPLASIA_WITH_ICHTHYOSIFORM_ERYTHRODERMA_AND_LIMB_DEFECTS 1 CONGENITAL_HEMIDYSPLASIA_WITH_ICHTHYOSIFORM_ERYTHRODERMA_AND_LIMB_DEFECTS
CONGENITAL_INSENSITIVITY_TO_PAIN_WITH_ANHIDROSIS 1 CONGENITAL_INSENSITIVITY_TO_PAIN_WITH_ANHIDROSIS
NON-PHENYLKETONURIA_HYPERPHENYLALANINEMIA 1 NON-PHENYLKETONURIA_HYPERPHENYLALANINEMIA
CEREBRAL_CAVERNOUS_MALFORMATIONS_TYPE_3 1 CEREBRAL_CAVERNOUS_MALFORMATIONS_TYPE_3
PROLIDASE_DEFICIENCY 1 PROLIDASE_DEFICIENCY
PEROXISOME_BIOGENESIS_DISORDER_COMPLEMENTATION_GROUP_1 1 PEROXISOME_BIOGENESIS_DISORDER_COMPLEMENTATION_GROUP_1
PEROXISOME_BIOGENESIS_DISORDER_COMPLEMENTATION_GROUP_5 1 PEROXISOME_BIOGENESIS_DISORDER_COMPLEMENTATION_GROUP_5
PEROXISOME_BIOGENESIS_DISORDER_COMPLEMENTATION_GROUP_11 1 PEROXISOME_BIOGENESIS_DISORDER_COMPLEMENTATION_GROUP_11
PMS2-related_Lynch_syndrome 1 PMS2-related_Lynch_syndrome
MISMATCH_REPAIR_CANCER_SYNDROME 1 MISMATCH_REPAIR_CANCER_SYNDROME
CARNEY_COMPLEX,_TYPE_1 1 CARNEY_COMPLEX,_TYPE_1
LHERMITTE-DUCLOS_DISEASE 1 LHERMITTE-DUCLOS_DISEASE
PTPN11-related_Noonan_Syndrome_with_Multiple_Lentigines 1 PTPN11-related_Noonan_Syndrome_with_Multiple_Lentigines
NOONAN_SYNDROME_1 1 NOONAN_SYNDROME_1
BALLER-GEROLD_SYNDROME 1 BALLER-GEROLD_SYNDROME
MEDULLARY_THYROID_CARCINOMA 1 MEDULLARY_THYROID_CARCINOMA
MULTIPLE_ENDOCRINE_NEOPLASIA_IIA 1 MULTIPLE_ENDOCRINE_NEOPLASIA_IIA
MULTIPLE_ENDOCRINE_NEOPLASIA_IIB 1 MULTIPLE_ENDOCRINE_NEOPLASIA_IIB
RENAL_AGENESIS 1 RENAL_AGENESIS
CARTILAGE-HAIR_HYPOPLASIA 1 CARTILAGE-HAIR_HYPOPLASIA
GASTROINTESTINAL_STROMAL_TUMOR 1 GASTROINTESTINAL_STROMAL_TUMOR
PARAGANGLIOMA_AND_GASTRIC_STROMAL_SARCOMA 1 PARAGANGLIOMA_AND_GASTRIC_STROMAL_SARCOMA
CARCINOID_TUMORS,_INTESTINAL 1 CARCINOID_TUMORS,_INTESTINAL
PARAGANGLIOMAS_1,_WITH_OR_WITHOUT_DEAFNESS 1 PARAGANGLIOMAS_1,_WITH_OR_WITHOUT_DEAFNESS
MUCOPOLYSACCHARIDOSIS_TYPE_3A 1 MUCOPOLYSACCHARIDOSIS_TYPE_3A
SALLA_DISEASE 1 SALLA_DISEASE
SCHIMKE_IMMUNOOSSEOUS_DYSPLASIA 1 SCHIMKE_IMMUNOOSSEOUS_DYSPLASIA
NIEMANN-PICK_DISEASE_TYPE_A 1 NIEMANN-PICK_DISEASE_TYPE_A
CEDNIK_SYNDROME 1 CEDNIK_SYNDROME
MICROPHTHALMIA_SYNDROMIC_TYPE_8 1 MICROPHTHALMIA_SYNDROMIC_TYPE_8
PERIPHERAL_DEMYELINATING_NEUROPATHY,_CENTRAL_DYSMYELINATING_LEUKODYSTROPHY,_WAARDENBURG_SYNDROME,_AND_HIRSCHSPRUNG_DISEASE 1 PERIPHERAL_DEMYELINATING_NEUROPATHY,_CENTRAL_DYSMYELINATING_LEUKODYSTROPHY,_WAARDENBURG_SYNDROME,_AND_HIRSCHSPRUNG_DISEASE
WAARDENBURG_SYNDROME_TYPE_2E 1 WAARDENBURG_SYNDROME_TYPE_2E
YEMENITE_DEAF-BLIND_HYPOPIGMENTATION_SYNDROME 1 YEMENITE_DEAF-BLIND_HYPOPIGMENTATION_SYNDROME
PANCREATIC_CANCER 1 PANCREATIC_CANCER
ICHTHYOSIS,_X-LINKED 1 ICHTHYOSIS,_X-LINKED
TYROSINEMIA_TYPE_2 1 TYROSINEMIA_TYPE_2
TERC-related_dyskeratosis_congenita 1 TERC-related_dyskeratosis_congenita
ECTODERMAL_DYSPLASIA_RAPP-HODGKIN_TYPE 1 ECTODERMAL_DYSPLASIA_RAPP-HODGKIN_TYPE
TP63-related_ectrodactyly,_ectodermal_dysplasia,_and_cleft_lip/palate_syndrome 1 TP63-related_ectrodactyly,_ectodermal_dysplasia,_and_cleft_lip/palate_syndrome
MULIBREY_NANISM 1 MULIBREY_NANISM
TSC1-related_tuberous_sclerosis 1 TSC1-related_tuberous_sclerosis
TSC2-related_tuberous_sclerosis 1 TSC2-related_tuberous_sclerosis
OCULOCUTANEOUS_ALBINISM_TYPE_1 1 OCULOCUTANEOUS_ALBINISM_TYPE_1
ANGELMAN_SYNDROME 1 ANGELMAN_SYNDROME
JOHANSON-BLIZZARD_SYNDROME 1 JOHANSON-BLIZZARD_SYNDROME
CONGENITAL_ERYTHROPOIETIC_PORPHYRIA 1 CONGENITAL_ERYTHROPOIETIC_PORPHYRIA
RICKETS_VITAMIN_D-DEPENDENT_TYPE_2A 1 RICKETS_VITAMIN_D-DEPENDENT_TYPE_2A
VON_HIPPEL-LINDAU_SYNDROME 1 VON_HIPPEL-LINDAU_SYNDROME
XERODERMA_PIGMENTOSUM,_GROUP_A 1 XERODERMA_PIGMENTOSUM,_GROUP_A
XERODERMA_PIGMENTOSUM,_GROUP_C 1 XERODERMA_PIGMENTOSUM,_GROUP_C
LETHAL_RESTRICTIVE_DERMOPATHY,_ZMPSTE24-RELATED 1 LETHAL_RESTRICTIVE_DERMOPATHY,_ZMPSTE24-RELATED
SEBORRHEA-LIKE_DERMATITIS_WITH_PSORIASIFORM_ELEMENTS 1 SEBORRHEA-LIKE_DERMATITIS_WITH_PSORIASIFORM_ELEMENTS
FGFR3-related_Crouzon_syndrome_with_acanthosis_nigricans 1 FGFR3-related_Crouzon_syndrome_with_acanthosis_nigricans
Acanthosis_Nigricans_and_insulin_resistance_syndrome 1 Acanthosis_Nigricans_and_insulin_resistance_syndrome
Acanthosis_Nigricans_and_insulin_resistance_syndrome_+_hypertension 1 Acanthosis_Nigricans_and_insulin_resistance_syndrome_+_hypertension
Acrodermatitis_enteropathica,_zinc_deficiency_type 1 Acrodermatitis_enteropathica,_zinc_deficiency_type
Acrokeratosis_verruciformis 1 Acrokeratosis_verruciformis
Adrenal_hypoplasia,_congenital 1 Adrenal_hypoplasia,_congenital
Albinism_(oculo-cutaneous_type_2) 1 Albinism_(oculo-cutaneous_type_2)
Albinism_(oculocutaneous_type_4) 1 Albinism_(oculocutaneous_type_4)
POLA1-related_pigmentary_disorder,_reticulate,_with_systemic_manifestations 1 POLA1-related_pigmentary_disorder,_reticulate,_with_systemic_manifestations
Amyloidosis,_familial_visceral 1 Amyloidosis,_familial_visceral
Angioneurotic_oedema,_hereditary,_with_normal_C1_inhibitor_concentration_and_function 1 Angioneurotic_oedema,_hereditary,_with_normal_C1_inhibitor_concentration_and_function
ARTERIAL_TORTUOSITY_SYNDROME 1 ARTERIAL_TORTUOSITY_SYNDROME
Autoimmune_lymphoproliferative_syndrome_type_IA 1 Autoimmune_lymphoproliferative_syndrome_type_IA
Autoimmune_lymphoproliferative_syndrome_type_IIA 1 Autoimmune_lymphoproliferative_syndrome_type_IIA
Bare_lymphocyte_syndrome_type_1 1 Bare_lymphocyte_syndrome_type_1
CDKN1C-related_Beckwith-Wiedemann_syndrome 1 CDKN1C-related_Beckwith-Wiedemann_syndrome
BLOOM_SYNDROME 1 BLOOM_SYNDROME
Calcinosis,_tumoral_with_hyperphosphataemia 1 Calcinosis,_tumoral_with_hyperphosphataemia
Carboxypeptidase_N_deficiency 1 Carboxypeptidase_N_deficiency
Cerebral_autosomal_dominant_arteiopathy_with_subcortical_infarcts_and_leukencephalopathy 1 Cerebral_autosomal_dominant_arteiopathy_with_subcortical_infarcts_and_leukencephalopathy
Cerebral_cavernous_malformation_1 1 Cerebral_cavernous_malformation_1
Cerebral_cavernous_malformation_2 1 Cerebral_cavernous_malformation_2
Cerebrotendinous_xanthomatosis 1 Cerebrotendinous_xanthomatosis
Chronic_granulomatous_disease_X_linked 1 Chronic_granulomatous_disease_X_linked
Chronic_granulomatous_disease_AR_cytochrome_b_negative 1 Chronic_granulomatous_disease_AR_cytochrome_b_negative
Chronic_granulomatous_disease_AR_cytochrome_b_positive_type_I 1 Chronic_granulomatous_disease_AR_cytochrome_b_positive_type_I
Chronic_granulomatous_disease_AR_cytochrome_b_positive_type_II 1 Chronic_granulomatous_disease_AR_cytochrome_b_positive_type_II
Chronic_neurologic_cutaneous_and_articular_syndrome_(CINCA) 1 Chronic_neurologic_cutaneous_and_articular_syndrome_(CINCA)
RPS6KA3-related_Coffin-Lowry_syndrome 1 RPS6KA3-related_Coffin-Lowry_syndrome
Cold_induced_sweating_syndrome 1 Cold_induced_sweating_syndrome
Cold_urticaria,_familial 1 Cold_urticaria,_familial
Cutis_gyrata_Beare_stevenson 1 Cutis_gyrata_Beare_stevenson
Cutis_laxa_type_I_autosomal_recessive 1 Cutis_laxa_type_I_autosomal_recessive
Cutis_laxa_X_linked/Occipital_Horn_Syndrome 1 Cutis_laxa_X_linked/Occipital_Horn_Syndrome
Cutis_laxa_autosomal_dominant_2 1 Cutis_laxa_autosomal_dominant_2
CYLINDROMATOSIS,_FAMILIAL 1 CYLINDROMATOSIS,_FAMILIAL
Dowling-Degos_disease 1 Dowling-Degos_disease
EDAR-related_hypohidrotic_ectodermal_dysplasia 1 EDAR-related_hypohidrotic_ectodermal_dysplasia
GJB6-related_ectodermal_dysplasia,_Clouston_type 1 GJB6-related_ectodermal_dysplasia,_Clouston_type
IKBKG-related_ectodermal_dysplasia_and_immunodeficiency 1 IKBKG-related_ectodermal_dysplasia_and_immunodeficiency
Ectodermal_dysplasia,_cleft_lip/palate 1 Ectodermal_dysplasia,_cleft_lip/palate
Ectodermal_dysplasia_+_skin_fragility_(McGrath_syndrome) 1 Ectodermal_dysplasia_+_skin_fragility_(McGrath_syndrome)
Ectodermal_dysplasia,_pure_hair/nail_type 1 Ectodermal_dysplasia,_pure_hair/nail_type
COL5A1-related_classical_Ehlers_Danlos_syndrome 1 COL5A1-related_classical_Ehlers_Danlos_syndrome
Classical-like_Ehlers_Danlos_syndrome 1 Classical-like_Ehlers_Danlos_syndrome
Kyphoscoliotic_Ehlers_Danlos_Syndrome 1 Kyphoscoliotic_Ehlers_Danlos_Syndrome
Dermatosparaxis_Ehlers_Danlos_syndrome 1 Dermatosparaxis_Ehlers_Danlos_syndrome
Ehlers_Danlos,_cardiac_valvular_form 1 Ehlers_Danlos,_cardiac_valvular_form
Spondylodysplastic_Ehlers_Danlos_syndrome 1 Spondylodysplastic_Ehlers_Danlos_syndrome
Erythromelalgia,_primary 1 Erythromelalgia,_primary
Fabry_disease 1 Fabry_disease
Familial_cold_autoinflammatory_syndrome 1 Familial_cold_autoinflammatory_syndrome
Familial_mediterranean_fever 1 Familial_mediterranean_fever
FANCONI-BICKEL_SYNDROME 1 FANCONI-BICKEL_SYNDROME
FANCB-related_Fanconi_anemia 1 FANCB-related_Fanconi_anemia
FANCG-related_Fanconi_anemia 1 FANCG-related_Fanconi_anemia
Fanconi_pancytopaenia_H 1 Fanconi_pancytopaenia_H
ASAH1-related_Farber_lipogranulomatosis 1 ASAH1-related_Farber_lipogranulomatosis
OPITZ-KAVEGGIA_SYNDROME 1 OPITZ-KAVEGGIA_SYNDROME
Giant_axonal_neuropathy_1 1 Giant_axonal_neuropathy_1
Glucocorticoid_deficiency_2 1 Glucocorticoid_deficiency_2
Glycogen_storage_disease_I 1 Glycogen_storage_disease_I
Glycogen_storage_disease_Ib 1 Glycogen_storage_disease_Ib
Griscelli_Type_2 1 Griscelli_Type_2
Griscelli_Type_3 1 Griscelli_Type_3
Haemochromatosis_type_1 1 Haemochromatosis_type_1
Haemochromatosis_type_2B_(juvenile) 1 Haemochromatosis_type_2B_(juvenile)
Haemochromatosis_type_3 1 Haemochromatosis_type_3
Haemochromatosis_type_4 1 Haemochromatosis_type_4
Hailey-Hailey_disease 1 Hailey-Hailey_disease
SMAD4-related_juvenile_polyposis/hereditary_hemorrhagic_telangiectasia_syndrome 1 SMAD4-related_juvenile_polyposis/hereditary_hemorrhagic_telangiectasia_syndrome
Ichthyosis_Bullosa_of_Siemens 1 Ichthyosis_Bullosa_of_Siemens
Kindler_syndrome 1 Kindler_syndrome
SIMPSON-GOLABI-BEHMEL_SYNDROME_TYPE_2 1 SIMPSON-GOLABI-BEHMEL_SYNDROME_TYPE_2
Skin_fragility,_Woolly_Hair 1 Skin_fragility,_Woolly_Hair
Steatocystoma_multiplex 1 Steatocystoma_multiplex
Stuve-Wiedeman_syndrome 1 Stuve-Wiedeman_syndrome
NOD2-related_granulomatous_synovitis_with_uveitis 1 NOD2-related_granulomatous_synovitis_with_uveitis
Transaldolase_deficiency 1 Transaldolase_deficiency
Trichorhinopharangeal_syndrome_I 1 Trichorhinopharangeal_syndrome_I
Trichorhinopharangeal_syndrome_II_(Langer-Giedon) 1 Trichorhinopharangeal_syndrome_II_(Langer-Giedon)
VENOUS_MALFORMATIONS,_MULTIPLE_CUTANEOUS_AND_MUCOSAL 1 VENOUS_MALFORMATIONS,_MULTIPLE_CUTANEOUS_AND_MUCOSAL
Vitamin_E,_familial_isolated_deficiency_of 1 Vitamin_E,_familial_isolated_deficiency_of
PAX3-related_Waardenburg_syndrome 1 PAX3-related_Waardenburg_syndrome
Waardenburg_syndrome_type_IID 1 Waardenburg_syndrome_type_IID
Waardenburg-Shah_syndrome,_neurologic_variant 1 Waardenburg-Shah_syndrome,_neurologic_variant
ADAMTS10-related_Weill-Marchesani_syndrome 1 ADAMTS10-related_Weill-Marchesani_syndrome
WERNER_SYNDROME 1 WERNER_SYNDROME
Warts,_hypogammaglobulinaemia,_infections_and_myelokathexis_syndrome 1 Warts,_hypogammaglobulinaemia,_infections_and_myelokathexis_syndrome
Wiskott-Aldrich_syndrome 1 Wiskott-Aldrich_syndrome
Wrinkly_skin_syndrome 1 Wrinkly_skin_syndrome
Xeroderma_pigmentosum_group_F 1 Xeroderma_pigmentosum_group_F
ERCC5-related_xeroderma_pigmentosum,_group_G 1 ERCC5-related_xeroderma_pigmentosum,_group_G
Xeroderma_pigmentosum_group_variant 1 Xeroderma_pigmentosum_group_variant
Haemochromatosis_type_2A_(juvenile) 1 Haemochromatosis_type_2A_(juvenile)
Albinism_(oculo-cutaneous_type_3) 1 Albinism_(oculo-cutaneous_type_3)
Rothmund-Thomson_Syndrome_Type_1 1 Rothmund-Thomson_Syndrome_Type_1
Epidermolysis_Bullosa_(Bart_Type) 1 Epidermolysis_Bullosa_(Bart_Type)
Melanoma-pancreatic_cancer_syndrome 1 Melanoma-pancreatic_cancer_syndrome
BLOC1S3-related_Hermansky-Pudlak_syndrome 1 BLOC1S3-related_Hermansky-Pudlak_syndrome
Kaposi_sarcoma 1 Kaposi_sarcoma
Keratosis_follicularis_spinulosa_decalvans 1 Keratosis_follicularis_spinulosa_decalvans
Laryngoonychocutaneous_syndrome 1 Laryngoonychocutaneous_syndrome
Leprechaunism 1 Leprechaunism
LESCH-NYHAN_SYNDROME 1 LESCH-NYHAN_SYNDROME
Lipodystrophy,_congenital_generalised_type_1 1 Lipodystrophy,_congenital_generalised_type_1
Lipodystrophy,_congenital_generalised_type_2 1 Lipodystrophy,_congenital_generalised_type_2
Lipodystrophy,_familial_partial_type_2 1 Lipodystrophy,_familial_partial_type_2
Lipodystrophy,_familial_partial_type_3 1 Lipodystrophy,_familial_partial_type_3
ECM1-related_lipoid_proteinosis 1 ECM1-related_lipoid_proteinosis
Prader-Willi_syndrome 1 Prader-Willi_syndrome
Psoriasis_susceptibilty_2 1 Psoriasis_susceptibilty_2
Epidermolysis_Bullosa_Simplex_(Weber_Cockayne) 1 Epidermolysis_Bullosa_Simplex_(Weber_Cockayne)
Epidermolysis_Bullosa_Simplex_(Mottled_pigmentation) 1 Epidermolysis_Bullosa_Simplex_(Mottled_pigmentation)
Epidermolysis_Bullosa_Simplex_(recessive) 1 Epidermolysis_Bullosa_Simplex_(recessive)
Epidermolysis_Bullosa_Simplex_and_limb-girdle_muscular_dystrophy 1 Epidermolysis_Bullosa_Simplex_and_limb-girdle_muscular_dystrophy
Epidermolysis_Bullosa_Simplex_(Ogna) 1 Epidermolysis_Bullosa_Simplex_(Ogna)
COL7A1-related_epidermolysis_bullosa_dystrophica 1 COL7A1-related_epidermolysis_bullosa_dystrophica
Epidermolysis_Bullosa_Dystrophica_(dominant) 1 Epidermolysis_Bullosa_Dystrophica_(dominant)
Epithelioma,_Ferguson-Smith_(multiple_self_healing_squamous_epithelioma) 1 Epithelioma,_Ferguson-Smith_(multiple_self_healing_squamous_epithelioma)
Haim-Munk_syndrome 1 Haim-Munk_syndrome
Hartnup_disease 1 Hartnup_disease
HPS4-related_Hermansky-Pudlak_syndrome 1 HPS4-related_Hermansky-Pudlak_syndrome
HPS5-related_Hermansky-Pudlak_syndrome 1 HPS5-related_Hermansky-Pudlak_syndrome
HPS6-related_Hermansky-Pudlak_syndrome 1 HPS6-related_Hermansky-Pudlak_syndrome
DTNBP1-related_Hermansky-Pudlak_syndrome 1 DTNBP1-related_Hermansky-Pudlak_syndrome
Multiple_sulphatase_deficiency 1 Multiple_sulphatase_deficiency
Myotonic_dystrophy_2 1 Myotonic_dystrophy_2
Naegeli_syndrome 1 Naegeli_syndrome
Netherton_syndrome 1 Netherton_syndrome
Neuropathy,_hereditary_sensory_and_autonomic,_type_II 1 Neuropathy,_hereditary_sensory_and_autonomic,_type_II
Neuropathy,_hereditary_sensory_and_autonomic,_type_III 1 Neuropathy,_hereditary_sensory_and_autonomic,_type_III
Nijmegan_breakage_syndrome 1 Nijmegan_breakage_syndrome
OSSEOUS_HETEROPLASIA,_PROGRESSIVE 1 OSSEOUS_HETEROPLASIA,_PROGRESSIVE
Osteogenesis_imperfecta_type_IV 1 Osteogenesis_imperfecta_type_IV
Osteogenesis_imperfecta_congenita_type_II 1 Osteogenesis_imperfecta_congenita_type_II
LOWE_OCULOCEREBRORENAL_SYNDROME 1 LOWE_OCULOCEREBRORENAL_SYNDROME
Hypercholesterolaemia,_autosomal_dominant 1 Hypercholesterolaemia,_autosomal_dominant
Hypercholesterolaemia,_autosomal_dominant,_type_B 1 Hypercholesterolaemia,_autosomal_dominant,_type_B
Hypercholesterolaemia,_autosomal_recessive,_1 1 Hypercholesterolaemia,_autosomal_recessive,_1
Hyperlipoproteinaemia_type_1 1 Hyperlipoproteinaemia_type_1
Hyperlipoproteinaemia,_type_IB 1 Hyperlipoproteinaemia,_type_IB
Hyper_IgD_syndrome 1 Hyper_IgD_syndrome
Hypotrichosis,_localised_autosomal_recessive 1 Hypotrichosis,_localised_autosomal_recessive
Hypotrichosis-lymphoedema-telangiectasia_syndrome 1 Hypotrichosis-lymphoedema-telangiectasia_syndrome
Hypotrichosis_simplex_of_the_scalp 1 Hypotrichosis_simplex_of_the_scalp
Congenital_ichthyosis_type_1 1 Congenital_ichthyosis_type_1
Congenital_ichthyosis_type_2 1 Congenital_ichthyosis_type_2
Congenital_ichthyosis_type_3 1 Congenital_ichthyosis_type_3
Ichthyosis,_congenital,_autosomal_recessive 1 Ichthyosis,_congenital,_autosomal_recessive
Ichthyosis_harlequin 1 Ichthyosis_harlequin
Ichthyosis_hystrix,_Curth-Macklin_type 1 Ichthyosis_hystrix,_Curth-Macklin_type
Ichthyosis,_leucocyte_vacuoles,_alopecia_and_sclerosing_cholangitis 1 Ichthyosis,_leucocyte_vacuoles,_alopecia_and_sclerosing_cholangitis
ABHD5-related_ichthyotic_neutral_lipid_storage_disease 1 ABHD5-related_ichthyotic_neutral_lipid_storage_disease
INCONTINENTIA_PIGMENTI 1 INCONTINENTIA_PIGMENTI
Juvenile_hyaline_fibromatosis 1 Juvenile_hyaline_fibromatosis
PPK_Vorner-Unna-Thost_(epidermolytic) 1 PPK_Vorner-Unna-Thost_(epidermolytic)
PPK_(Bothnia) 1 PPK_(Bothnia)
PPK_Mal_de_Meleda_(transgrediens) 1 PPK_Mal_de_Meleda_(transgrediens)
PPK_Naxos_(+_woolly_hair_+_ECG_abnormalities,_NAXOS_disease) 1 PPK_Naxos_(+_woolly_hair_+_ECG_abnormalities,_NAXOS_disease)
PPK_+_oesophageal_cancer 1 PPK_+_oesophageal_cancer
PPK_Vohwinkel+ichthyosis_(variant) 1 PPK_Vohwinkel+ichthyosis_(variant)
Peeling_skin_syndrome,_acral_type 1 Peeling_skin_syndrome,_acral_type
Periodic_fever,_familial,_autosomal_dominant 1 Periodic_fever,_familial,_autosomal_dominant
Pyogenic_sterile_arthritis,_pyoderma_gangrenosum_and_acne 1 Pyogenic_sterile_arthritis,_pyoderma_gangrenosum_and_acne
RAPP-HODGKIN_SYNDROME 1 RAPP-HODGKIN_SYNDROME
REFSUM_DISEASE 1 REFSUM_DISEASE
Restrictive_dermopathy,_lethal 1 Restrictive_dermopathy,_lethal
Trichothiodystrophy,_non_photosensitive 1 Trichothiodystrophy,_non_photosensitive
Epidermolysis_Bullosa_Junctional_(atrophic_benign) 1 Epidermolysis_Bullosa_Junctional_(atrophic_benign)
Epidermolysis_Bullosa_Junctional 1 Epidermolysis_Bullosa_Junctional
Epidermolysis_Bullosa_Pruriginosa 1 Epidermolysis_Bullosa_Pruriginosa
CUTIS_LAXA,_AUTOSOMAL_RECESSIVE,_TYPE_IB 1 CUTIS_LAXA,_AUTOSOMAL_RECESSIVE,_TYPE_IB
Autoimmune_lymphoproliferative_syndrome_type_IA_(biallelic,_dominant_negative) 1 Autoimmune_lymphoproliferative_syndrome_type_IA_(biallelic,_dominant_negative)
Autoimmune_lymphoproliferative_syndrome_type_IA_(mosaic,_dominant_negative) 1 Autoimmune_lymphoproliferative_syndrome_type_IA_(mosaic,_dominant_negative)
SJOGREN-LARSSON_SYNDROME 1 SJOGREN-LARSSON_SYNDROME
MCCUNE-ALBRIGHT_SYNDROME 1 MCCUNE-ALBRIGHT_SYNDROME
ATAXIA_TELANGIECTASIA-LIKE_DISORDER 1 ATAXIA_TELANGIECTASIA-LIKE_DISORDER
Alport_syndrome_x-linked 1 Alport_syndrome_x-linked
TUMOR_PREDISPOSITION_SYNDROME 1 TUMOR_PREDISPOSITION_SYNDROME
JUVENILE_POLYPOSIS_SYNDROME,_INFANTILE_FORM 1 JUVENILE_POLYPOSIS_SYNDROME,_INFANTILE_FORM
BRCA1_related_CANCER 1 BRCA1_related_CANCER
FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_J 1 FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_J
GASTRIC_CANCER,_FAMILIAL_DIFFUSE,_WITH_OR_WITHOUT_CLEFT_LIP_AND/OR_PALATE 1 GASTRIC_CANCER,_FAMILIAL_DIFFUSE,_WITH_OR_WITHOUT_CLEFT_LIP_AND/OR_PALATE
LEUKEMIA,_ACUTE_MYELOID 1 LEUKEMIA,_ACUTE_MYELOID
CHEK2_related_CANCER 1 CHEK2_related_CANCER
COLORECTAL_CANCER,_HEREDITARY_NONPOLYPOSIS,_TYPE_8 1 COLORECTAL_CANCER,_HEREDITARY_NONPOLYPOSIS,_TYPE_8
XERODERMA_PIGMENTOSUM,_GROUP_D 1 XERODERMA_PIGMENTOSUM,_GROUP_D
FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_Q 1 FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_Q
EXT1-related_multiple_exostoses 1 EXT1-related_multiple_exostoses
EXOSTOSES,_MULTIPLE,_TYPE_2 1 EXOSTOSES,_MULTIPLE,_TYPE_2
EMBERGER_SYNDROME 1 EMBERGER_SYNDROME
RENAL_CELL_CARCINOMA,_PAPILLARY,_1 1 RENAL_CELL_CARCINOMA,_PAPILLARY,_1
ADENOMAS,_MULTIPLE_COLORECTAL 1 ADENOMAS,_MULTIPLE_COLORECTAL
NEUROFIBROMATOSIS,_TYPE_1 1 NEUROFIBROMATOSIS,_TYPE_1
FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_N 1 FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_N
PALB2_related_CANCER 1 PALB2_related_CANCER
BASAL_CELL_NEVUS_SYNDROME 1 BASAL_CELL_NEVUS_SYNDROME
COWDEN_SYNDROME_1 1 COWDEN_SYNDROME_1
RETINOBLASTOMA 1 RETINOBLASTOMA
TYLOSIS_WITH_ESOPHAGEAL_CANCER 1 TYLOSIS_WITH_ESOPHAGEAL_CANCER
PLATELET_DISORDER,_FAMILIAL,_WITH_ASSOCIATED_MYELOID_MALIGNANCY 1 PLATELET_DISORDER,_FAMILIAL,_WITH_ASSOCIATED_MYELOID_MALIGNANCY
PARAGANGLIOMAS_2 1 PARAGANGLIOMAS_2
PARAGANGLIOMAS_3 1 PARAGANGLIOMAS_3
LI-FRAUMENI_SYNDROME 1 LI-FRAUMENI_SYNDROME
NEUROBLASTOMA_WITH_HIRSCHSPRUNG_DISEASE 1 NEUROBLASTOMA_WITH_HIRSCHSPRUNG_DISEASE
HYPERPARATHYROIDISM-JAW_TUMOR_SYNDROME 1 HYPERPARATHYROIDISM-JAW_TUMOR_SYNDROME
MEDULLOBLASTOMA,_ASSOCIATED_WITH_GORLIN_SYNDROME 1 MEDULLOBLASTOMA,_ASSOCIATED_WITH_GORLIN_SYNDROME
FAMILIAL_GIST 1 FAMILIAL_GIST
HEREDITARY_MIXED_POLYPOSIS 1 HEREDITARY_MIXED_POLYPOSIS
ADENOMATOUS_POLYPOSIS,_CRC,__BREAST_CANCER_AND_OTHER_TUMOURS 1 ADENOMATOUS_POLYPOSIS,_CRC,__BREAST_CANCER_AND_OTHER_TUMOURS
PARAGANGLIOMAS 1 PARAGANGLIOMAS
FAMILIAL_WILMS_TUMOUR 1 FAMILIAL_WILMS_TUMOUR
Autoimmune_lymphoproliferative_syndrome 1 Autoimmune_lymphoproliferative_syndrome
Multiple_endocrine_neoplasia,_type_IV 1 Multiple_endocrine_neoplasia,_type_IV
ELANE-Related_Neutropenia 1 ELANE-Related_Neutropenia
Lymphoproliferative_syndrome,_X-linked 1 Lymphoproliferative_syndrome,_X-linked
Melanoma,_cutaneous_malignant 1 Melanoma,_cutaneous_malignant
Meningioma,_familial 1 Meningioma,_familial
Cowden_syndrome 1 Cowden_syndrome
Paget_disease_of_bone 1 Paget_disease_of_bone
Dyskeratosis_congenita,_autosomal_dominant 1 Dyskeratosis_congenita,_autosomal_dominant
Lymphoproliferative_syndrome 1 Lymphoproliferative_syndrome
RTEL1-related_dyskeratosis_congenita 1 RTEL1-related_dyskeratosis_congenita
Myeloproliferative/lymphoproliferative_neoplasms,_familial_(multiple_types),_susceptibility_to 1 Myeloproliferative/lymphoproliferative_neoplasms,_familial_(multiple_types),_susceptibility_to
Diaphyseal_medullary_stenosis_with_malignant_fibrous_histiocytoma 1 Diaphyseal_medullary_stenosis_with_malignant_fibrous_histiocytoma
Neuroblastoma,_susceptibility_to 1 Neuroblastoma,_susceptibility_to
Nonsmall_cell_lung_cancer,_susceptibility_to 1 Nonsmall_cell_lung_cancer,_susceptibility_to
Pituitary_adenoma_predisposition 1 Pituitary_adenoma_predisposition
RAD51C_related_cancer 1 RAD51C_related_cancer
PEUTZ-JEGHERS_SYNDROME 1 PEUTZ-JEGHERS_SYNDROME
RHABDOID_TUMOR_PREDISPOSITION_SYNDROME 1 RHABDOID_TUMOR_PREDISPOSITION_SYNDROME
Xeroderma_pigmentosum,_variant_type 1 Xeroderma_pigmentosum,_variant_type
Myofibromatosis,_infantile 1 Myofibromatosis,_infantile
Hyper-IgE_recurrent_infection_syndrome,_autosomal_recessive 1 Hyper-IgE_recurrent_infection_syndrome,_autosomal_recessive
PARN-related_dyskeratosis_congenita 1 PARN-related_dyskeratosis_congenita
Gastrointestinal_stromal_tumor/GIST-plus_syndrome,_somatic_or_familial 1 Gastrointestinal_stromal_tumor/GIST-plus_syndrome,_somatic_or_familial
Multiple_self-healing_squamous_epithelioma,_susceptibility_to 1 Multiple_self-healing_squamous_epithelioma,_susceptibility_to
RAD51D_related_cancer 1 RAD51D_related_cancer
DICER1_Tumor_Predisposition 1 DICER1_Tumor_Predisposition
ATM-related_cancer 1 ATM-related_cancer
PTPN13_related_predisposition_to_bone_marrow_failure 1 PTPN13_related_predisposition_to_bone_marrow_failure
MBD4_multi-tumour_predisposition_syndrome 1 MBD4_multi-tumour_predisposition_syndrome
GIP-dependent_primary_bilateral_macronodular_adrenal_hyperplasia_with_Cushing's_syndrome 1 GIP-dependent_primary_bilateral_macronodular_adrenal_hyperplasia_with_Cushing's_syndrome
Predisposition_to_ependymoma 1 Predisposition_to_ependymoma
Bazex-Dupre-Christol_basal_cell_carcinoma_susceptibility_syndrome 1 Bazex-Dupre-Christol_basal_cell_carcinoma_susceptibility_syndrome
CHEK2-related_cancer_predisposition 1 CHEK2-related_cancer_predisposition
NPAT-related_cancer 1 NPAT-related_cancer
OCULOAURICULAR_SYNDROME 1 OCULOAURICULAR_SYNDROME
FANCONI_ANEMIA_COMPLEMENTATION_GROUP_P 1 FANCONI_ANEMIA_COMPLEMENTATION_GROUP_P
ARGININEMIA 1 ARGININEMIA
SECKEL_SYNDROME_TYPE_1 1 SECKEL_SYNDROME_TYPE_1
ALG9-CDG 1 ALG9-CDG
COLOBOMA,_OCULAR,_WITH_OR_WITHOUT_HEARING_IMPAIRMENT,_CLEFT_LIP/PALATE,_AND/OR_INTELLECTUAL_DEVELOPMENTAL_DISORDER 1 COLOBOMA,_OCULAR,_WITH_OR_WITHOUT_HEARING_IMPAIRMENT,_CLEFT_LIP/PALATE,_AND/OR_INTELLECTUAL_DEVELOPMENTAL_DISORDER
BARDET-BIEDL_SYNDROME_TYPE_9 1 BARDET-BIEDL_SYNDROME_TYPE_9
BARDET-BIEDL_SYNDROME_TYPE_11 1 BARDET-BIEDL_SYNDROME_TYPE_11
RENAL-COLOBOMA_SYNDROME 1 RENAL-COLOBOMA_SYNDROME
FGFR3-related_lacrimo-auriculo-dento-digital_syndrome 1 FGFR3-related_lacrimo-auriculo-dento-digital_syndrome
DYSCHROMATOSIS_SYMMETRICA_HEREDITARIA_1 1 DYSCHROMATOSIS_SYMMETRICA_HEREDITARIA_1
HYPOGONADOTROPIC_HYPOGONADISM_WITH_OR_WITHOUT_ANOSMIA 1 HYPOGONADOTROPIC_HYPOGONADISM_WITH_OR_WITHOUT_ANOSMIA
SPONDYLOCARPOTARSAL_SYNOSTOSIS_SYNDROME 1 SPONDYLOCARPOTARSAL_SYNOSTOSIS_SYNDROME
NONPECIFIC_SEVERE_ID 1 NONPECIFIC_SEVERE_ID
AGPS-related_rhizomelic_chondrodysplasia_punctata 1 AGPS-related_rhizomelic_chondrodysplasia_punctata
ORAL-FACIAL-DIGITAL_SYNDROME_TYPE_1 1 ORAL-FACIAL-DIGITAL_SYNDROME_TYPE_1
LISSENCEPHALY_TYPE_1 1 LISSENCEPHALY_TYPE_1
COL1A1-RELATED_OSTEOGENESIS_IMPERFECTA 1 COL1A1-RELATED_OSTEOGENESIS_IMPERFECTA
CAMTA1-related_cerebellar_dysfunction_with_variable_cognitive_and_behavioral_abnormalities 1 CAMTA1-related_cerebellar_dysfunction_with_variable_cognitive_and_behavioral_abnormalities
SPONDYLOEPIPHYSEAL_DYSPLASIA_WITH_CONGENITAL_JOINT_DISLOCATIONS 1 SPONDYLOEPIPHYSEAL_DYSPLASIA_WITH_CONGENITAL_JOINT_DISLOCATIONS
LEBER_CONGENITAL_AMAUROSIS_6 1 LEBER_CONGENITAL_AMAUROSIS_6
POPLITEAL_PTERYGIUM_SYNDROME,_LETHAL_TYPE 1 POPLITEAL_PTERYGIUM_SYNDROME,_LETHAL_TYPE
ULNAR-MAMMARY_SYNDROME 1 ULNAR-MAMMARY_SYNDROME
CEREBELLAR_DYSPLASIA_WITH_CYSTS_WITH_OR_WITHOUT_RETINAL_DYSTROPHY 1 CEREBELLAR_DYSPLASIA_WITH_CYSTS_WITH_OR_WITHOUT_RETINAL_DYSTROPHY
COG7-CDG 1 COG7-CDG
RETT_SYNDROME_(RTT) 1 RETT_SYNDROME_(RTT)
HEREDITARY_HYPERFERRITINEMIA-CATARACT_SYNDROME 1 HEREDITARY_HYPERFERRITINEMIA-CATARACT_SYNDROME
NOONAN_SYNDROME-LIKE_DISORDER_WITH_OR_WITHOUT_JUVENILE_MEYLOMONOCYTIC_LEUKEMIA 1 NOONAN_SYNDROME-LIKE_DISORDER_WITH_OR_WITHOUT_JUVENILE_MEYLOMONOCYTIC_LEUKEMIA
KNIEST_DYSPLASIA 1 KNIEST_DYSPLASIA
HYPERPHOSPHATASIA_WITH_INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROME_2 1 HYPERPHOSPHATASIA_WITH_INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROME_2
MICROCEPHALY,_GROWTH_FAILURE_AND_RETINOPATHY 1 MICROCEPHALY,_GROWTH_FAILURE_AND_RETINOPATHY
ARYLSULFATASE_A_DEFICIENCY 1 ARYLSULFATASE_A_DEFICIENCY
CLN3-related_neuronal_ceroid_lipofuscinosis 1 CLN3-related_neuronal_ceroid_lipofuscinosis
LRP5-related_osteopetrosis 1 LRP5-related_osteopetrosis
SPEECH-LANGUAGE_DISORDER_1 1 SPEECH-LANGUAGE_DISORDER_1
ADAMS-OLIVER_SYNDROME_2 1 ADAMS-OLIVER_SYNDROME_2
PARKINSONISM-DYSTONIA,_INFANTILE 1 PARKINSONISM-DYSTONIA,_INFANTILE
CHAMP1-related_neurodevelopmental_disorder 1 CHAMP1-related_neurodevelopmental_disorder
CONGENITAL_PRIMARY_APHAKIA 1 CONGENITAL_PRIMARY_APHAKIA
CLN8-related_neuronal_ceroid_lipofuscinosis 1 CLN8-related_neuronal_ceroid_lipofuscinosis
MCKUSICK-KAUFMAN_SYNDROME 1 MCKUSICK-KAUFMAN_SYNDROME
NEPHROTIC_SYNDROME_TYPE_1 1 NEPHROTIC_SYNDROME_TYPE_1
SPONDYLOEPIPHYSEAL_DYSPLASIA_TYPE_KIMBERLEY 1 SPONDYLOEPIPHYSEAL_DYSPLASIA_TYPE_KIMBERLEY
EXTREME_MYOPIA;MYOPIA_23,_AUTOSOMAL_RECESSIVE 1 EXTREME_MYOPIA;MYOPIA_23,_AUTOSOMAL_RECESSIVE
EPILEPTIC_ENCEPHALOPATHY,_EARLY_INFANTILE,_12 1 EPILEPTIC_ENCEPHALOPATHY,_EARLY_INFANTILE,_12
HEMOLYTIC_ANEMIA_DUE_TO_UMPH1_DEFICIENCY 1 HEMOLYTIC_ANEMIA_DUE_TO_UMPH1_DEFICIENCY
SLC4A11-related_corneal_endothelial_dystrophy_with_or_without_deafness 1 SLC4A11-related_corneal_endothelial_dystrophy_with_or_without_deafness
INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_ARX-RELATED 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_ARX-RELATED
INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_1 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_1
MICROPHTHALMIA_WITH_CATARACTS_AND_IRIS_ABNORMALITIES 1 MICROPHTHALMIA_WITH_CATARACTS_AND_IRIS_ABNORMALITIES
MYASTHENIC_SYNDROME,_CONGENITAL,_WITH_TUBULAR_AGGREGATES_2 1 MYASTHENIC_SYNDROME,_CONGENITAL,_WITH_TUBULAR_AGGREGATES_2
NEMALINE_MYOPATHY_6 1 NEMALINE_MYOPATHY_6
PIERRE_ROBIN_SEQUENCE 1 PIERRE_ROBIN_SEQUENCE
OSTEOPATHIA_STRIATA_WITH_CRANIAL_SCLEROSIS 1 OSTEOPATHIA_STRIATA_WITH_CRANIAL_SCLEROSIS
NEPHRONOPHTHISIS_9 1 NEPHRONOPHTHISIS_9
SPONDYLOEPIPHYSEAL_DYSPLASIA_TARDA 1 SPONDYLOEPIPHYSEAL_DYSPLASIA_TARDA
PURE_HAIR_AND_NAIL_ECTODERMAL_DYSPLASIA 1 PURE_HAIR_AND_NAIL_ECTODERMAL_DYSPLASIA
MEIER-GORLIN_SYNDROME_5 1 MEIER-GORLIN_SYNDROME_5
IFT140-related_short-rib_thoracic_dysplasia_with_or_without_polydactyly 1 IFT140-related_short-rib_thoracic_dysplasia_with_or_without_polydactyly
HYPERPHOSPHATASIA_WITH_INTELLECTUAL_DEVELOPMENTAL_DISORDER 1 HYPERPHOSPHATASIA_WITH_INTELLECTUAL_DEVELOPMENTAL_DISORDER
Schaaf-Yang_syndrome 1 Schaaf-Yang_syndrome
TUBULAR-AGGREGATE_MYOPATHY 1 TUBULAR-AGGREGATE_MYOPATHY
Glucose_Transporter_Type_1_Deficiency_Syndrome 1 Glucose_Transporter_Type_1_Deficiency_Syndrome
ABLEPHARON_MACROSTOMIA_SYNDROME 1 ABLEPHARON_MACROSTOMIA_SYNDROME
ECTODERMAL_DYSPLASIA/SHORT_STATURE_SYNDROME 1 ECTODERMAL_DYSPLASIA/SHORT_STATURE_SYNDROME
3-HYDROXYACYL-COENZYME_A_DEHYDROGENASE_DEFICIENCY 1 3-HYDROXYACYL-COENZYME_A_DEHYDROGENASE_DEFICIENCY
ACROMESOMELIC_CHONDRODYSPLASIA_GREBE_TYPE 1 ACROMESOMELIC_CHONDRODYSPLASIA_GREBE_TYPE
ORNITHINE_TRANSCARBAMYLASE_DEFICIENCY 1 ORNITHINE_TRANSCARBAMYLASE_DEFICIENCY
INHERITED_SKIN_FRAGILITY 1 INHERITED_SKIN_FRAGILITY
CORNEAL_DYSTROPHY_FUCHS_ENDOTHELIAL_TYPE_6 1 CORNEAL_DYSTROPHY_FUCHS_ENDOTHELIAL_TYPE_6
CATARACT,_COPPOCK-LIKE 1 CATARACT,_COPPOCK-LIKE
GROWTH_HORMONE_INSENSITIVITY_WITH_IMMUNODEFICIENCY 1 GROWTH_HORMONE_INSENSITIVITY_WITH_IMMUNODEFICIENCY
TOWNES-BROCKS_SYNDROME 1 TOWNES-BROCKS_SYNDROME
RETINITIS_PIGMENTOSA_57 1 RETINITIS_PIGMENTOSA_57
RENAL-HEPATIC-PANCREATIC_DYSPLASIA_2 1 RENAL-HEPATIC-PANCREATIC_DYSPLASIA_2
HEMORRHAGIC_DESTRUCTION_OF_THE_BRAIN,_SUBEPENDYMAL_CALCIFICATION,_AND_CATARACTS 1 HEMORRHAGIC_DESTRUCTION_OF_THE_BRAIN,_SUBEPENDYMAL_CALCIFICATION,_AND_CATARACTS
CONGENITAL_CONTRACTURES_OF_THE_LIMBS_AND_FACE,_HYPOTONIA,_AND_DEVELOPMENTAL_DELAY 1 CONGENITAL_CONTRACTURES_OF_THE_LIMBS_AND_FACE,_HYPOTONIA,_AND_DEVELOPMENTAL_DELAY
ALOPECIA_AND_T-CELL_IMMUNODEFICIENCY 1 ALOPECIA_AND_T-CELL_IMMUNODEFICIENCY
BARDET-BIEDL_SYNDROME_TYPE_10 1 BARDET-BIEDL_SYNDROME_TYPE_10
INFANTILE_HYPERTROPHIC_CARDIOMYOPATHY_AND_LACTIC_ACIDOSIS 1 INFANTILE_HYPERTROPHIC_CARDIOMYOPATHY_AND_LACTIC_ACIDOSIS
GROWTH_RETARDATION_DEVELOPMENTAL_DELAY_COARSE_FACIES_AND_EARLY_DEATH 1 GROWTH_RETARDATION_DEVELOPMENTAL_DELAY_COARSE_FACIES_AND_EARLY_DEATH
DESBUQUOIS_DYSPLASIA_2 1 DESBUQUOIS_DYSPLASIA_2
MULTIPLE_PTERYGIUM_SYNDROME_ESCOBAR_VARIANT 1 MULTIPLE_PTERYGIUM_SYNDROME_ESCOBAR_VARIANT
TEMTAMY_PREAXIAL_BRACHYDACTYLY_SYNDROME 1 TEMTAMY_PREAXIAL_BRACHYDACTYLY_SYNDROME
GOLDBERG-SHPRINTZEN_MEGACOLON_SYNDROME 1 GOLDBERG-SHPRINTZEN_MEGACOLON_SYNDROME
IFT172-related_short-rib_thoracic_dysplasia_with_or_without_polydactyly 1 IFT172-related_short-rib_thoracic_dysplasia_with_or_without_polydactyly
INPP5E-related_intellectual_development_disorder,_truncal_obesity,_retinal_dystrophy,_and_micropenis 1 INPP5E-related_intellectual_development_disorder,_truncal_obesity,_retinal_dystrophy,_and_micropenis
SINOATRIAL_NODE_DYSFUNCTION_AND_DEAFNESS 1 SINOATRIAL_NODE_DYSFUNCTION_AND_DEAFNESS
ATRIOVENTRICULAR_SEPTAL_DEFECT_5 1 ATRIOVENTRICULAR_SEPTAL_DEFECT_5
HYPERIMMUNOGLOBULIN_E_RECURRENT_INFECTION_SYNDROME_AUTOSOMAL_RECESSIVE 1 HYPERIMMUNOGLOBULIN_E_RECURRENT_INFECTION_SYNDROME_AUTOSOMAL_RECESSIVE
HEREDITARY_FOLATE_MALABSORPTION 1 HEREDITARY_FOLATE_MALABSORPTION
EXFOLIATIVE_ICHTHYOSIS,_AUTOSOMAL_RECESSIVE,_ICHTHYOSIS_BULLOSA_OF_SIEMENS-LIKE 1 EXFOLIATIVE_ICHTHYOSIS,_AUTOSOMAL_RECESSIVE,_ICHTHYOSIS_BULLOSA_OF_SIEMENS-LIKE
ANEMIA,_SIDEROBLASTIC,_PYRIDOXINE-REFRACTORY,_AUTOSOMAL_RECESSIVE 1 ANEMIA,_SIDEROBLASTIC,_PYRIDOXINE-REFRACTORY,_AUTOSOMAL_RECESSIVE
AUTOSOMAL_RECESSIVE_OTOSPONDYLOMEGAEPIPHYSEAL_DYSPLASIA 1 AUTOSOMAL_RECESSIVE_OTOSPONDYLOMEGAEPIPHYSEAL_DYSPLASIA
BRCA1-related_Fanconi_anaemia 1 BRCA1-related_Fanconi_anaemia
FRAGILE_X-E_INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROME 1 FRAGILE_X-E_INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROME
COMBINED_OXIDATIVE_PHOSPHORYLATION_DEFICIENCY_5 1 COMBINED_OXIDATIVE_PHOSPHORYLATION_DEFICIENCY_5
BOSLEY-SALIH-ALORAINY_SYNDROME 1 BOSLEY-SALIH-ALORAINY_SYNDROME
JERVELL_AND_LANGE-NIELSEN_SYNDROME_TYPE_2 1 JERVELL_AND_LANGE-NIELSEN_SYNDROME_TYPE_2
GPSM2-related_sensorineural_hearing_loss_with_corpus_callosum_hypoplasia,_gray_matter_heterotopia_and_arachnoid_cysts 1 GPSM2-related_sensorineural_hearing_loss_with_corpus_callosum_hypoplasia,_gray_matter_heterotopia_and_arachnoid_cysts
PXDN-related_anterior_segment_dysgenesis_with_sclerocornea 1 PXDN-related_anterior_segment_dysgenesis_with_sclerocornea
PRIMARY_ALDOSTERONISM,_SEIZURES,_AND_NEUROLOGIC_ABNORMALITIES 1 PRIMARY_ALDOSTERONISM,_SEIZURES,_AND_NEUROLOGIC_ABNORMALITIES
NAKAJO_SYNDROME 1 NAKAJO_SYNDROME
HYPOTONIA,_INFANTILE,_WITH_PSYCHOMOTOR_RETARDATION_AND_CHARACTERISTIC_FACIES 1 HYPOTONIA,_INFANTILE,_WITH_PSYCHOMOTOR_RETARDATION_AND_CHARACTERISTIC_FACIES
OCCIPITAL_CORTICAL_MALFORMATIONS 1 OCCIPITAL_CORTICAL_MALFORMATIONS
METHIONINE_ADENOSYLTRANSFERASE_DEFICIENCY 1 METHIONINE_ADENOSYLTRANSFERASE_DEFICIENCY
CONGENITAL_INABILITY_TO_EXPERIENCE_PAIN 1 CONGENITAL_INABILITY_TO_EXPERIENCE_PAIN
COL9A1-related_Stickler_syndrome 1 COL9A1-related_Stickler_syndrome
ATRIAL_SEPTAL_DEFECT_WITH_ATRIOVENTRICULAR_CONDUCTION_DEFECTS 1 ATRIAL_SEPTAL_DEFECT_WITH_ATRIOVENTRICULAR_CONDUCTION_DEFECTS
PITT-HOPKINS_SYNDROME 1 PITT-HOPKINS_SYNDROME
COMBINED_OXIDATIVE_PHOSPHORYLATION_DEFICIENCY_1 1 COMBINED_OXIDATIVE_PHOSPHORYLATION_DEFICIENCY_1
POLYMICROGYRIA_WITH_OPTIC_NERVE_HYPOPLASIA 1 POLYMICROGYRIA_WITH_OPTIC_NERVE_HYPOPLASIA
CHROMOSOME_11P15.5-RELATED_RUSSELL-SILVER_SYNDROME 1 CHROMOSOME_11P15.5-RELATED_RUSSELL-SILVER_SYNDROME
BARDET-BIEDL_SYNDROME_TYPE_4 1 BARDET-BIEDL_SYNDROME_TYPE_4
AMELOGENESIS_IMPERFECTA 1 AMELOGENESIS_IMPERFECTA
MICROCEPHALIC_OSTEODYSPLASTIC_PRIMORDIAL_DWARFISM,_TYPE_II 1 MICROCEPHALIC_OSTEODYSPLASTIC_PRIMORDIAL_DWARFISM,_TYPE_II
MOSAIC_VARIEGATED_ANEUPLOIDY_SYNDROME_1 1 MOSAIC_VARIEGATED_ANEUPLOIDY_SYNDROME_1
BRANCHIOOTORENAL_SYNDROME_TYPE_1 1 BRANCHIOOTORENAL_SYNDROME_TYPE_1
N-ACETYLGLUTAMATE_SYNTHASE_DEFICIENCY 1 N-ACETYLGLUTAMATE_SYNTHASE_DEFICIENCY
22Q11.2_DELETION_SYNDROME 1 22Q11.2_DELETION_SYNDROME
HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA_SYNDROME 1 HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA_SYNDROME
GLYCOGEN_STORAGE_DISEASE_TYPE_VI 1 GLYCOGEN_STORAGE_DISEASE_TYPE_VI
LETHAL_NEONATAL_RIGIDITY_AND_SEIZURE_SYNDROME 1 LETHAL_NEONATAL_RIGIDITY_AND_SEIZURE_SYNDROME
CONGENITAL_DISORDER_OF_GLYCOSYLATION_TYPE_1N 1 CONGENITAL_DISORDER_OF_GLYCOSYLATION_TYPE_1N
SPASTIC_PARAPLEGIA_9,_AUTOSOMAL_DOMINANT 1 SPASTIC_PARAPLEGIA_9,_AUTOSOMAL_DOMINANT
CUTIS_LAXA,_AUTOSOMAL_RECESSIVE,_TYPE_IIB 1 CUTIS_LAXA,_AUTOSOMAL_RECESSIVE,_TYPE_IIB
INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_41 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_41
GLDC-RELATED_GLYCINE_ENCEPHALOPATHY 1 GLDC-RELATED_GLYCINE_ENCEPHALOPATHY
Intellectual_disability_with_autism_spectrum_disorder 1 Intellectual_disability_with_autism_spectrum_disorder
DYSKERATOSIS_CONGENITA,_AUTOSOMAL_RECESSIVE_1 1 DYSKERATOSIS_CONGENITA,_AUTOSOMAL_RECESSIVE_1
ACHONDROGENESIS_TYPE_2 1 ACHONDROGENESIS_TYPE_2
RENAL_TUBULAR_ACIDOSIS,_DISTAL,_AD 1 RENAL_TUBULAR_ACIDOSIS,_DISTAL,_AD
CORTICAL_DYSPLASIA-FOCAL_EPILEPSY_SYNDROME 1 CORTICAL_DYSPLASIA-FOCAL_EPILEPSY_SYNDROME
MUENKE_SYNDROME 1 MUENKE_SYNDROME
SHORT_SYNDROME 1 SHORT_SYNDROME
COHEN_SYNDROME 1 COHEN_SYNDROME
SERKAL_SYNDROME 1 SERKAL_SYNDROME
HYPERINSULINISM-HYPERAMMONEMIA_SYNDROME 1 HYPERINSULINISM-HYPERAMMONEMIA_SYNDROME
RENAL_TUBULAR_ACIDOSIS,_DISTAL,_AR 1 RENAL_TUBULAR_ACIDOSIS,_DISTAL,_AR
LONG_CHAIN_3-HYDROXYACYL-COA_DEHYDROGENASE_DEFICIENCY 1 LONG_CHAIN_3-HYDROXYACYL-COA_DEHYDROGENASE_DEFICIENCY
BROWN-VIALETTO-VAN_LAERE_SYNDROME 1 BROWN-VIALETTO-VAN_LAERE_SYNDROME
INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROMIC_X-LINKED_TURNER_TYPE 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROMIC_X-LINKED_TURNER_TYPE
SPINAL_MUSCULAR_ATROPHY,_LOWER_EXTREMITY-PREDOMINANT,_AD 1 SPINAL_MUSCULAR_ATROPHY,_LOWER_EXTREMITY-PREDOMINANT,_AD
MYOPATHY,_EARLY-ONSET,_AREFLEXIA,_RESPIRATORY_DISTRESS,_AND_DYSPHAGIA 1 MYOPATHY,_EARLY-ONSET,_AREFLEXIA,_RESPIRATORY_DISTRESS,_AND_DYSPHAGIA
POLYMICROGYRIA 1 POLYMICROGYRIA
TRICHOTHIODYSTROPHY_NON-PHOTOSENSITIVE_TYPE_1 1 TRICHOTHIODYSTROPHY_NON-PHOTOSENSITIVE_TYPE_1
HYDROCEPHALUS_DUE_TO_STENOSIS_OF_THE_AQUEDUCT_OF_SYLVIUS 1 HYDROCEPHALUS_DUE_TO_STENOSIS_OF_THE_AQUEDUCT_OF_SYLVIUS
DENYS-DRASH_SYNDROME 1 DENYS-DRASH_SYNDROME
SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_WITH_JOINT_LAXITY_TYPE_1 1 SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_WITH_JOINT_LAXITY_TYPE_1
MEGALOCORNEA,_X-LINKED 1 MEGALOCORNEA,_X-LINKED
CONGENITAL_ANOMALIES_OF_KIDNEY_AND_URINARY_TRACT,_CAKUT1 1 CONGENITAL_ANOMALIES_OF_KIDNEY_AND_URINARY_TRACT,_CAKUT1
CONGENITAL_AND_JUVENILE_CATARACT 1 CONGENITAL_AND_JUVENILE_CATARACT
ALG8-CDG 1 ALG8-CDG
3MC_SYNDROME_1 1 3MC_SYNDROME_1
ROBINOW_SYNDROME,_AUTOSOMAL_RECESSIVE_1 1 ROBINOW_SYNDROME,_AUTOSOMAL_RECESSIVE_1
SPINOCEREBELLAR_ATAXIA_TYPE_13 1 SPINOCEREBELLAR_ATAXIA_TYPE_13
NORRIE_DISEASE 1 NORRIE_DISEASE
INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AUTOSOMAL_DOMINANT_32 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AUTOSOMAL_DOMINANT_32
MICROPHTHALMIA_SYNDROMIC_TYPE_2 1 MICROPHTHALMIA_SYNDROMIC_TYPE_2
CORNELIA_DE_LANGE-LIKE_SYNDROME_HDAC8_XLR 1 CORNELIA_DE_LANGE-LIKE_SYNDROME_HDAC8_XLR
COENZYME_Q10_DEFICIENCY,_PRIMARY,_2 1 COENZYME_Q10_DEFICIENCY,_PRIMARY,_2
ALG1-CDG 1 ALG1-CDG
PONTOCEREBELLAR_HYPOPLASIA_TYPE_6 1 PONTOCEREBELLAR_HYPOPLASIA_TYPE_6
SUBCUTANEOUS_LIPODYSTROPHY,_DEAFNESS,_MANDIBULAR_HYPOPLASIA_AND_MALE_HYPOGONADISM_ 1 SUBCUTANEOUS_LIPODYSTROPHY,_DEAFNESS,_MANDIBULAR_HYPOPLASIA_AND_MALE_HYPOGONADISM_
KARS1-related_leukoencephalopathy_with_or_without_deafness 1 KARS1-related_leukoencephalopathy_with_or_without_deafness
CONGENITAL_DISORDER_OF_GLYCOSYLATION_TYPE_2C 1 CONGENITAL_DISORDER_OF_GLYCOSYLATION_TYPE_2C
GLASS_SYNDROME 1 GLASS_SYNDROME
HYPOKALEMIC_PERIODIC_PARALYSIS 1 HYPOKALEMIC_PERIODIC_PARALYSIS
CEREBRAL_CAVERNOUS_MALFORMATIONS_TYPE_1 1 CEREBRAL_CAVERNOUS_MALFORMATIONS_TYPE_1
ALG11-CDG 1 ALG11-CDG
SEPTOOPTIC_DYSPLASIA 1 SEPTOOPTIC_DYSPLASIA
SPONDYLOCOSTAL_DYSOSTOSIS_TYPE_1 1 SPONDYLOCOSTAL_DYSOSTOSIS_TYPE_1
MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_CONGENITAL_WITH_BRAIN_AND_EYE_ANOMALIES_TYPE_A3_(MDDGA3) 1 MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_CONGENITAL_WITH_BRAIN_AND_EYE_ANOMALIES_TYPE_A3_(MDDGA3)
DEAFNESS_AUTOSOMAL_RECESSIVE_TYPE_2 1 DEAFNESS_AUTOSOMAL_RECESSIVE_TYPE_2
CLEIDOCRANIAL_DYSPLASIA 1 CLEIDOCRANIAL_DYSPLASIA
CRYGC-related_congenital_cataract 1 CRYGC-related_congenital_cataract
MARTINEZ-FRIAS_SYNDROME 1 MARTINEZ-FRIAS_SYNDROME
LEIGH_SYNDROME,_FRENCH-CANADIAN_TYPE 1 LEIGH_SYNDROME,_FRENCH-CANADIAN_TYPE
INFANTILE_STRIATONIGRAL_DEGENERATION 1 INFANTILE_STRIATONIGRAL_DEGENERATION
FLOATING-HARBOR_SYNDROME 1 FLOATING-HARBOR_SYNDROME
NEURODEGENERATION_WITH_BRAIN_IRON_ACCUMULATION 1 NEURODEGENERATION_WITH_BRAIN_IRON_ACCUMULATION
NEPHRONOPHTHISIS_TYPE_4 1 NEPHRONOPHTHISIS_TYPE_4
AGNATHIA-OTOCEPHALY_COMPLEX_monoallelic 1 AGNATHIA-OTOCEPHALY_COMPLEX_monoallelic
SCN1A-RELATED_SEIZURE_DISORDERS 1 SCN1A-RELATED_SEIZURE_DISORDERS
MULTIPLE_EPIPHYSEAL_DYSPLASIA_TYPE_6 1 MULTIPLE_EPIPHYSEAL_DYSPLASIA_TYPE_6
SPASTIC_PARAPLEGIA_AUTOSOMAL_RECESSIVE_TYPE_15 1 SPASTIC_PARAPLEGIA_AUTOSOMAL_RECESSIVE_TYPE_15
INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AUTOSOMAL_DOMINANT_24 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AUTOSOMAL_DOMINANT_24
CRANIOECTODERMAL_DYSPLASIA_2 1 CRANIOECTODERMAL_DYSPLASIA_2
SCAPER-related_neurodevelopmental_disorder_and_retinitis_pigmentosa 1 SCAPER-related_neurodevelopmental_disorder_and_retinitis_pigmentosa
AICARDI-GOUTIERES_SYNDROME_4 1 AICARDI-GOUTIERES_SYNDROME_4
CEREBRAL_PALSY_SPASTIC_QUADRIPLEGIC_TYPE_3 1 CEREBRAL_PALSY_SPASTIC_QUADRIPLEGIC_TYPE_3
CONGENITAL_HEART_DEFECTS_and_XX_sex_reversal 1 CONGENITAL_HEART_DEFECTS_and_XX_sex_reversal
TEMTAMY_SYNDROME;_COLOBOMA,_HYPOPLASTIC_CORPUS_CALLOSUM_AND_INTELLECTUAL_DISABILITY 1 TEMTAMY_SYNDROME;_COLOBOMA,_HYPOPLASTIC_CORPUS_CALLOSUM_AND_INTELLECTUAL_DISABILITY
RHABDOID_PREDISPOSITION_SYNDROME_1 1 RHABDOID_PREDISPOSITION_SYNDROME_1
PYRUVATE_DEHYDROGENASE_E2_DEFICIENCY 1 PYRUVATE_DEHYDROGENASE_E2_DEFICIENCY
FRANK-TER_HAAR_SYNDROME 1 FRANK-TER_HAAR_SYNDROME
BOSCH-BOONSTRA_OPTIC_ATROPHY_SYNDROME 1 BOSCH-BOONSTRA_OPTIC_ATROPHY_SYNDROME
SAY-BARBER-BIESECKER-YOUNG-SIMPSON_SYNDROME 1 SAY-BARBER-BIESECKER-YOUNG-SIMPSON_SYNDROME
GREIG_CEPHALOPOLYSYNDACTYLY_SYNDROME 1 GREIG_CEPHALOPOLYSYNDACTYLY_SYNDROME
NEUROPATHY,_HEREDITARY_SENSORY_AND_AUTONOMIC,_TYPE_IIB 1 NEUROPATHY,_HEREDITARY_SENSORY_AND_AUTONOMIC,_TYPE_IIB
LETHAL_CONGENITAL_CONTRACTURE_SYNDROME_TYPE_3 1 LETHAL_CONGENITAL_CONTRACTURE_SYNDROME_TYPE_3
PITUITARY_DWARFISM_II 1 PITUITARY_DWARFISM_II
COENZYME_Q10_DEFICIENCY,_PRIMARY,_7 1 COENZYME_Q10_DEFICIENCY,_PRIMARY,_7
TOOTH_AGENESIS,_SELECTIVE,_3 1 TOOTH_AGENESIS,_SELECTIVE,_3
EMERY-DREIFUSS_MUSCULAR_DYSTROPHY_6,_X-LINKED 1 EMERY-DREIFUSS_MUSCULAR_DYSTROPHY_6,_X-LINKED
DEAFNESS_AUTOSOMAL_RECESSIVE_TYPE_12 1 DEAFNESS_AUTOSOMAL_RECESSIVE_TYPE_12
NIGHT_BLINDNESS,_CONGENITAL_STATIONARY,_TYPE_1C 1 NIGHT_BLINDNESS,_CONGENITAL_STATIONARY,_TYPE_1C
PEROXISOME_BIOGENESIS_DISORDER_COMPLEMENTATION_GROUP_13 1 PEROXISOME_BIOGENESIS_DISORDER_COMPLEMENTATION_GROUP_13
INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_59 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_59
HYPOPHOSPHATASIA 1 HYPOPHOSPHATASIA
GLI2-RELATED_HOLOPROSENCEPHALY 1 GLI2-RELATED_HOLOPROSENCEPHALY
METHYLMALONIC_ACIDURIA_TYPE_CBLA 1 METHYLMALONIC_ACIDURIA_TYPE_CBLA
AUTOSOMAL_DOMINANT_LARSEN_SYNDROME 1 AUTOSOMAL_DOMINANT_LARSEN_SYNDROME
STRA6-related_syndromic_microphthalmia 1 STRA6-related_syndromic_microphthalmia
INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_ZNF711-RELATED 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_ZNF711-RELATED
INTELLECTUAL_DEVELOPMENTAL_DISORDER_AUTOSOMAL_RECESSIVE_TYPE_1 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER_AUTOSOMAL_RECESSIVE_TYPE_1
FKRP-related_congenital_alpha-dystroglycanopathy_with_brain_and_eye_anomalies 1 FKRP-related_congenital_alpha-dystroglycanopathy_with_brain_and_eye_anomalies
MICROCEPHALY_CAPILLARY_MALFORMATION_(MIC-CAP)_SYNDROME 1 MICROCEPHALY_CAPILLARY_MALFORMATION_(MIC-CAP)_SYNDROME
SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL_DYSPLASIA 1 SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL_DYSPLASIA
AUTOSOMAL-_RECESSIVE_INTELLECTUAL_DISABILITY_MRT5 1 AUTOSOMAL-_RECESSIVE_INTELLECTUAL_DISABILITY_MRT5
PEROXISOME_BIOGENESIS_DISORDER_COMPLEMENTATION_GROUP_9 1 PEROXISOME_BIOGENESIS_DISORDER_COMPLEMENTATION_GROUP_9
AUTOIMMUNE_DISEASE,_SYNDROMIC_MULTISYSTEM 1 AUTOIMMUNE_DISEASE,_SYNDROMIC_MULTISYSTEM
CONGENITAL_DISORDER_OF_GLYCOSYLATION_TYPE_1O 1 CONGENITAL_DISORDER_OF_GLYCOSYLATION_TYPE_1O
AROMATIC_L-AMINO-ACID_DECARBOXYLASE_DEFICIENCY 1 AROMATIC_L-AMINO-ACID_DECARBOXYLASE_DEFICIENCY
MULTIPLE_MITOCHONDRIAL_DYSFUNCTIONS_SYNDROME_1 1 MULTIPLE_MITOCHONDRIAL_DYSFUNCTIONS_SYNDROME_1
FAMILIAL_FOCAL_EPILEPSY_WITH_VARIABLE_FOCI 1 FAMILIAL_FOCAL_EPILEPSY_WITH_VARIABLE_FOCI
CLOVES:_CONGENITAL_LIPOMATOUS_OVERGROWTH,_VASCULAR_MALFORMATIONS,_AND_EPIDERMAL_NEVI 1 CLOVES:_CONGENITAL_LIPOMATOUS_OVERGROWTH,_VASCULAR_MALFORMATIONS,_AND_EPIDERMAL_NEVI
INPP5E-related_Joubert_syndrome 1 INPP5E-related_Joubert_syndrome
POSTAXIAL_ACROFACIAL_DYSOSTOSIS 1 POSTAXIAL_ACROFACIAL_DYSOSTOSIS
CHARCOT-MARIE-TOOTH_DISEASE_X-LINKED_RECESSIVE_TYPE_5 1 CHARCOT-MARIE-TOOTH_DISEASE_X-LINKED_RECESSIVE_TYPE_5
HYPOPHOSPHATEMIC_RICKETS,_AR 1 HYPOPHOSPHATEMIC_RICKETS,_AR
MICROPHTHALMIA_ISOLATED_TYPE_3 1 MICROPHTHALMIA_ISOLATED_TYPE_3
AMISH_LETHAL_MICROCEPHALY 1 AMISH_LETHAL_MICROCEPHALY
MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_(CONGENITAL_WITH_BRAIN_AND_EYE_ANOMALIES),_TYPE_A,_11 1 MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_(CONGENITAL_WITH_BRAIN_AND_EYE_ANOMALIES),_TYPE_A,_11
ADAMS-OLIVER_SYNDROME_1 1 ADAMS-OLIVER_SYNDROME_1
BARDET-BIEDL_SYNDROME_TYPE_5 1 BARDET-BIEDL_SYNDROME_TYPE_5
HYDROCEPHALUS,_NONSYNDROMIC,_AUTOSOMAL_RECESSIVE_2 1 HYDROCEPHALUS,_NONSYNDROMIC,_AUTOSOMAL_RECESSIVE_2
2-AMINOADIPIC_AND_2-OXOADIPIC_ACIDURIA 1 2-AMINOADIPIC_AND_2-OXOADIPIC_ACIDURIA
MICROPHTHALMIA,_ISOLATED,_WITH_COLOBOMA_7 1 MICROPHTHALMIA,_ISOLATED,_WITH_COLOBOMA_7
EPILEPSY_WITH_MYOCLONIC-ATONIC_SEIZURES 1 EPILEPSY_WITH_MYOCLONIC-ATONIC_SEIZURES
LEUKODYSTROPHY_HYPOMYELINATING_TYPE_4 1 LEUKODYSTROPHY_HYPOMYELINATING_TYPE_4
GUANIDINOACETATE_METHYLTRANSFERASE_DEFICIENCY 1 GUANIDINOACETATE_METHYLTRANSFERASE_DEFICIENCY
X-LINKED_CONGENITAL_IDIOPATHIC_INTESTINAL_PSEUDOOBSTRUCTION 1 X-LINKED_CONGENITAL_IDIOPATHIC_INTESTINAL_PSEUDOOBSTRUCTION
CFC1-RELATED_CONOTRUNCAL_HEART_MALFORMATIONS 1 CFC1-RELATED_CONOTRUNCAL_HEART_MALFORMATIONS
LYSYL_HYDROXYLASE_3_DEFICIENCY 1 LYSYL_HYDROXYLASE_3_DEFICIENCY
ARID1B-related_Coffin-Siris_Syndrome 1 ARID1B-related_Coffin-Siris_Syndrome
AUTOINFLAMMATION,_ANTIBODY_DEFICIENCY,_AND_IMMUNE_DYSREGULATION,_PLCG2-ASSOCIATED 1 AUTOINFLAMMATION,_ANTIBODY_DEFICIENCY,_AND_IMMUNE_DYSREGULATION,_PLCG2-ASSOCIATED
NEURAL_TUBE_DEFECT 1 NEURAL_TUBE_DEFECT
SPINOCEREBELLAR_ATAXIA,_AUTOSOMAL_RECESSIVE_12 1 SPINOCEREBELLAR_ATAXIA,_AUTOSOMAL_RECESSIVE_12
GLYCOGEN_STORAGE_DISEASE_TYPE_III 1 GLYCOGEN_STORAGE_DISEASE_TYPE_III
TRICHO-RHINO-PHALANGEAL_SYNDROME_TYPE_1 1 TRICHO-RHINO-PHALANGEAL_SYNDROME_TYPE_1
NEMALINE_MYOPATHY_8,_AUTOSOMAL_RECESSIVE 1 NEMALINE_MYOPATHY_8,_AUTOSOMAL_RECESSIVE
CONGENITAL_DISORDER_OF_GLYCOSYLATION_TYPE_2A 1 CONGENITAL_DISORDER_OF_GLYCOSYLATION_TYPE_2A
SOX11-related_neurodevelopmental_disorder 1 SOX11-related_neurodevelopmental_disorder
PARKINSON_DISEASE_9 1 PARKINSON_DISEASE_9
LISSENCEPHALY_2 1 LISSENCEPHALY_2
GALACTOSEMIA 1 GALACTOSEMIA
CRIGLER-NAJJAR_SYNDROME,_TYPE_I 1 CRIGLER-NAJJAR_SYNDROME,_TYPE_I
MOWAT-WILSON_SYNDROME 1 MOWAT-WILSON_SYNDROME
TTC8-related_retinitis_pigmentosa 1 TTC8-related_retinitis_pigmentosa
CRANIOECTODERMAL_DYSPLASIA_TYPE_3 1 CRANIOECTODERMAL_DYSPLASIA_TYPE_3
PROLIFERATIVE_VASCULOPATHY_AND_HYDRAENCEPHALY-HYDROCEPHALY_SYNDROME 1 PROLIFERATIVE_VASCULOPATHY_AND_HYDRAENCEPHALY-HYDROCEPHALY_SYNDROME
GAPO_SYNDROME 1 GAPO_SYNDROME
DENT_DISEASE_TYPE_2 1 DENT_DISEASE_TYPE_2
NEPHROTIC_SYNDROME,_TYPE_2 1 NEPHROTIC_SYNDROME,_TYPE_2
Kleefstra_syndrome 1 Kleefstra_syndrome
MEIER-GORLIN_SYNDROME_4 1 MEIER-GORLIN_SYNDROME_4
Autosomal_recessive_titinopathy_with_arthrogryposis_and/or_myopathy_ 1 Autosomal_recessive_titinopathy_with_arthrogryposis_and/or_myopathy_
SYNPOLYDACTYLY,_3/3-PRIME/4,_ASSOCIATED_WITH_METACARPAL_AND_METATARSAL_SYNOSTOSES 1 SYNPOLYDACTYLY,_3/3-PRIME/4,_ASSOCIATED_WITH_METACARPAL_AND_METATARSAL_SYNOSTOSES
ATHELIA 1 ATHELIA
EPILEPTIC_ENCEPHALOPATHY_WITH_SEIZURE_ONSET_IN_THE_FIRST_DAYS_OF_LIFE 1 EPILEPTIC_ENCEPHALOPATHY_WITH_SEIZURE_ONSET_IN_THE_FIRST_DAYS_OF_LIFE
LYSOSOMAL_BETA-MANNOSIDOSIS 1 LYSOSOMAL_BETA-MANNOSIDOSIS
LENZ-MAJEWSKI_HYPEROSTOTIC_DWARFISM 1 LENZ-MAJEWSKI_HYPEROSTOTIC_DWARFISM
ANONYCHIA_CONGENITA 1 ANONYCHIA_CONGENITA
CARNITINE-ACYLCARNITINE_TRANSLOCASE_DEFICIENCY 1 CARNITINE-ACYLCARNITINE_TRANSLOCASE_DEFICIENCY
SPLIT-HAND/FOOT_MALFORMATION_TYPE_6 1 SPLIT-HAND/FOOT_MALFORMATION_TYPE_6
AICARDI-GOUTIERES_SYNDROME_1,_DOMINANT_AND_RECESSIVE 1 AICARDI-GOUTIERES_SYNDROME_1,_DOMINANT_AND_RECESSIVE
EPILEPTIC_ENCEPHALOPATHY_Loss-of-function 1 EPILEPTIC_ENCEPHALOPATHY_Loss-of-function
COHESINOPATHY 1 COHESINOPATHY
INFANTILE_ENCEPHALOPATHY_WITH_EPILEPSY_AND_DYSMORPHIC_CORPUS_CALLOSUM 1 INFANTILE_ENCEPHALOPATHY_WITH_EPILEPSY_AND_DYSMORPHIC_CORPUS_CALLOSUM
HAWKINSINURIA 1 HAWKINSINURIA
GNPAT-related_rhizomelic_chondrodysplasia_punctata 1 GNPAT-related_rhizomelic_chondrodysplasia_punctata
DNM1-associated_microcephaly,_developmental_and_epileptic_encephalopathy 1 DNM1-associated_microcephaly,_developmental_and_epileptic_encephalopathy
COG5-CDG 1 COG5-CDG
GM2-GANGLIOSIDOSIS_TYPE_2 1 GM2-GANGLIOSIDOSIS_TYPE_2
SPONDYLOCOSTAL_DYSOSTOSIS_TYPE_2 1 SPONDYLOCOSTAL_DYSOSTOSIS_TYPE_2
HYPERPHENYLALANINEMIA,_BH4-DEFICIENT,_D 1 HYPERPHENYLALANINEMIA,_BH4-DEFICIENT,_D
DEAFNESS,_DYSTONIA,_AND_CENTRAL_HYPOMYELINATION_WITH_DISORGANIZATION_OF_THE_GOLGI_APPARATUS 1 DEAFNESS,_DYSTONIA,_AND_CENTRAL_HYPOMYELINATION_WITH_DISORGANIZATION_OF_THE_GOLGI_APPARATUS
ATRIAL_SEPTAL_DEFECT_TYPE_3 1 ATRIAL_SEPTAL_DEFECT_TYPE_3
CEREBRAL_PALSY_SPASTIC_QUADRIPLEGIC_TYPE_2 1 CEREBRAL_PALSY_SPASTIC_QUADRIPLEGIC_TYPE_2
KBG_SYNDROME 1 KBG_SYNDROME
POTOCKI-SHAFFER_SYNDROME 1 POTOCKI-SHAFFER_SYNDROME
NEURAL_TUBE_DEFECTS 1 NEURAL_TUBE_DEFECTS
JOUBERT_SYNDROME_TYPE_10 1 JOUBERT_SYNDROME_TYPE_10
DIABETES_MELLITUS,_PERMANENT_NEONATAL,_WITH_CEREBELLAR_AGENESIS 1 DIABETES_MELLITUS,_PERMANENT_NEONATAL,_WITH_CEREBELLAR_AGENESIS
SEVERE_EARLY-ONSET_EPILEPSY 1 SEVERE_EARLY-ONSET_EPILEPSY
INTELLECTUAL_DEVELOPMENTAL_DISORDER-JOINT_HYPERMOBILITY-SKIN_LAXITY_WITH_OR_WITHOUT_METABOLIC_ABNORMALITIES 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER-JOINT_HYPERMOBILITY-SKIN_LAXITY_WITH_OR_WITHOUT_METABOLIC_ABNORMALITIES
WNT7A-_associated_skeletal_malformations_syndrome 1 WNT7A-_associated_skeletal_malformations_syndrome
HYPERKALEMIC_PERIODIC_PARALYSIS_TYPE_1 1 HYPERKALEMIC_PERIODIC_PARALYSIS_TYPE_1
BLEPHAROPHIMOSIS,_PTOSIS,_AND_EPICANTHUS_INVERSUS_SYNDROME 1 BLEPHAROPHIMOSIS,_PTOSIS,_AND_EPICANTHUS_INVERSUS_SYNDROME
NEMALINE_MYOPATHY_7 1 NEMALINE_MYOPATHY_7
MICROCEPHALY,_POSTNATAL_PROGRESSIVE,_WITH_SEIZURES_AND_BRAIN_ATROPHY 1 MICROCEPHALY,_POSTNATAL_PROGRESSIVE,_WITH_SEIZURES_AND_BRAIN_ATROPHY
THYROID_HORMONOGENESIS_DEFECT_I 1 THYROID_HORMONOGENESIS_DEFECT_I
MOYAMOYA_DISEASE_5 1 MOYAMOYA_DISEASE_5
SPLIT-HAND/FOOT_MALFORMATION_TYPE_3 1 SPLIT-HAND/FOOT_MALFORMATION_TYPE_3
ASPH-related_dysmorphism,_lens_dislocation,_anterior_segment_abnormalities,_and_filtering_blebs 1 ASPH-related_dysmorphism,_lens_dislocation,_anterior_segment_abnormalities,_and_filtering_blebs
CORTICAL_DYSPLASIA,_COMPLEX,_WITH_OTHER_BRAIN_MALFORMATIONS_5 1 CORTICAL_DYSPLASIA,_COMPLEX,_WITH_OTHER_BRAIN_MALFORMATIONS_5
SULFATIDOSIS,_JUVENILE,_AUSTIN_TYPE 1 SULFATIDOSIS,_JUVENILE,_AUSTIN_TYPE
CIB2-related_Usher_syndrome 1 CIB2-related_Usher_syndrome
MACROCEPHALY,_MACROSOMIA,_FACIAL_DYSMORPHISM_SYNDROME 1 MACROCEPHALY,_MACROSOMIA,_FACIAL_DYSMORPHISM_SYNDROME
OROFACIODIGITAL_SYNDROME_XIV 1 OROFACIODIGITAL_SYNDROME_XIV
JOUBERT_SYNDROME_15 1 JOUBERT_SYNDROME_15
EPILEPTIC_ENCEPHALOPATHY,_EARLY_INFANTILE,_24 1 EPILEPTIC_ENCEPHALOPATHY,_EARLY_INFANTILE,_24
CAMURATI-ENGELMANN_DISEASE 1 CAMURATI-ENGELMANN_DISEASE
PTEN_Hamartoma_Tumor_Syndrome 1 PTEN_Hamartoma_Tumor_Syndrome
OSTEOGLOPHONIC_DYSPLASIA 1 OSTEOGLOPHONIC_DYSPLASIA
ATRIAL_SEPTAL_DEFECT_TYPE_6 1 ATRIAL_SEPTAL_DEFECT_TYPE_6
INTELLECTUAL_DEVELOPMENTAL_DISORDER_AUTOSOMAL_RECESSIVE_TYPE_6 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER_AUTOSOMAL_RECESSIVE_TYPE_6
MEIER-GORLIN_SYNDROME_1 1 MEIER-GORLIN_SYNDROME_1
BARDET-BIEDL_SYNDROME_TYPE_3 1 BARDET-BIEDL_SYNDROME_TYPE_3
MUCOPOLYSACCHARIDOSIS_TYPE_1S 1 MUCOPOLYSACCHARIDOSIS_TYPE_1S
Tatton-Brown_Rahman_syndrome_(OVERGROWTH_SYNDROME_WITH_INTELLECTUAL_DISABILITY) 1 Tatton-Brown_Rahman_syndrome_(OVERGROWTH_SYNDROME_WITH_INTELLECTUAL_DISABILITY)
UV-SENSITIVE_SYNDROME 1 UV-SENSITIVE_SYNDROME
CHOANAL_ATRESIA_AND_LYMPHEDEMA 1 CHOANAL_ATRESIA_AND_LYMPHEDEMA
FAMILIAL_HORIZONTAL_GAZE_PALSY_WITH_PROGRESSIVE_SCOLIOSIS 1 FAMILIAL_HORIZONTAL_GAZE_PALSY_WITH_PROGRESSIVE_SCOLIOSIS
BARDET-BIEDL_SYNDROME_TYPE_1 1 BARDET-BIEDL_SYNDROME_TYPE_1
FRONTONASAL_DYSPLASIA_TYPE_3 1 FRONTONASAL_DYSPLASIA_TYPE_3
BMP4-related_microphthalmia_with_brain_and_digit_anomalies 1 BMP4-related_microphthalmia_with_brain_and_digit_anomalies
TETRA-AMELIA_SYNDROME 1 TETRA-AMELIA_SYNDROME
MERRF 1 MERRF
CONGENITAL_DISORDER_OF_GLYCOSYLATION_TYPE_1G 1 CONGENITAL_DISORDER_OF_GLYCOSYLATION_TYPE_1G
SUCCINYL-COA-3-KETOACID-COA_TRANSFERASE_DEFICIENCY 1 SUCCINYL-COA-3-KETOACID-COA_TRANSFERASE_DEFICIENCY
MFSD8-RELATED_NEURONAL_CEROID-LIPOFUSCINOSIS 1 MFSD8-RELATED_NEURONAL_CEROID-LIPOFUSCINOSIS
COENZYME_Q10_DEFICIENCY,_PRIMARY,_3 1 COENZYME_Q10_DEFICIENCY,_PRIMARY,_3
MUCOPOLYSACCHARIDOSIS_TYPE_7 1 MUCOPOLYSACCHARIDOSIS_TYPE_7
2-METHYL-3-HYDROXYBUTYRYL-COA_DEHYDROGENASE_DEFICIENCY 1 2-METHYL-3-HYDROXYBUTYRYL-COA_DEHYDROGENASE_DEFICIENCY
NOONAN_SYNDROME_8 1 NOONAN_SYNDROME_8
DIABETES_MELLITUS,_6Q24-RELATED_TRANSIENT_NEONATAL 1 DIABETES_MELLITUS,_6Q24-RELATED_TRANSIENT_NEONATAL
LEUKOENCEPHALOPATHY_WITH_BRAINSTEM_AND_SPINAL_CORD_INVOLVEMENT_AND_LACTATE_ELEVATION 1 LEUKOENCEPHALOPATHY_WITH_BRAINSTEM_AND_SPINAL_CORD_INVOLVEMENT_AND_LACTATE_ELEVATION
MALONYL-COA_DECARBOXYLASE_DEFICIENCY 1 MALONYL-COA_DECARBOXYLASE_DEFICIENCY
ALOPECIA_NEUROLOGIC_DEFECTS_AND_ENDOCRINOPATHY_SYNDROME 1 ALOPECIA_NEUROLOGIC_DEFECTS_AND_ENDOCRINOPATHY_SYNDROME
HGSNAT-related_mucopolysaccharidosis_type_IIIC 1 HGSNAT-related_mucopolysaccharidosis_type_IIIC
GLUTARICACIDEMIA_TYPE_1 1 GLUTARICACIDEMIA_TYPE_1
ZUNICH_NEUROECTODERMAL_SYNDROME 1 ZUNICH_NEUROECTODERMAL_SYNDROME
ZFPM2-associated_malformation_syndrome 1 ZFPM2-associated_malformation_syndrome
PRIMARY_CILIARY_DYSPLASIA 1 PRIMARY_CILIARY_DYSPLASIA
CANTU_SYNDROME_HYPERTRICHOTIC_OSTEOCHONDRODYSPLASIA 1 CANTU_SYNDROME_HYPERTRICHOTIC_OSTEOCHONDRODYSPLASIA
KABUKI_SYNDROME_2 1 KABUKI_SYNDROME_2
LANGER_MESOMELIC_DYSPLASIA 1 LANGER_MESOMELIC_DYSPLASIA
BENIGN_FAMILIAL_INFANTILE_EPILEPSY_AND_INFANTILE_CONVULSIONS_WITH_CHOREOATHETOSIS_SYNDROME 1 BENIGN_FAMILIAL_INFANTILE_EPILEPSY_AND_INFANTILE_CONVULSIONS_WITH_CHOREOATHETOSIS_SYNDROME
GDF6_Oculo-Skeletal_Syndrome 1 GDF6_Oculo-Skeletal_Syndrome
COACH_SYNDROME 1 COACH_SYNDROME
VACTERL_ASSOCIATION,_X-LINKED,_WITH_OR_WITHOUT_HYDROCEPHALUS 1 VACTERL_ASSOCIATION,_X-LINKED,_WITH_OR_WITHOUT_HYDROCEPHALUS
EPILEPSY,_PROGRESSIVE_MYOCLONIC_7 1 EPILEPSY,_PROGRESSIVE_MYOCLONIC_7
CHRNB2-RELATED_NOCTURNAL_FRONTAL_LOBE_EPILEPSY,_AUTOSOMAL_DOMINANT 1 CHRNB2-RELATED_NOCTURNAL_FRONTAL_LOBE_EPILEPSY,_AUTOSOMAL_DOMINANT
METHYLMALONIC_ACIDURIA_AND_HOMOCYSTINURIA_TYPE_CBLD 1 METHYLMALONIC_ACIDURIA_AND_HOMOCYSTINURIA_TYPE_CBLD
GALK1-related_galactokinase_deficiency_with_cataracts 1 GALK1-related_galactokinase_deficiency_with_cataracts
NIGHT_BLINDNESS,_CONGENITAL_STATIONARY,_TYPE_1A 1 NIGHT_BLINDNESS,_CONGENITAL_STATIONARY,_TYPE_1A
VENTRICULOMEGALY_WITH_CYSTIC_KIDNEY_DISEASE 1 VENTRICULOMEGALY_WITH_CYSTIC_KIDNEY_DISEASE
PYRUVATE_CARBOXYLASE_DEFICIENCY 1 PYRUVATE_CARBOXYLASE_DEFICIENCY
JOUBERT_SYNDROME_14 1 JOUBERT_SYNDROME_14
CCDC78-related_congenital_myopathy 1 CCDC78-related_congenital_myopathy
ATRIAL_SEPTAL_DEFECT_TYPE_2 1 ATRIAL_SEPTAL_DEFECT_TYPE_2
SEVERE_COBBLESTONE_LISSENCEPHALY 1 SEVERE_COBBLESTONE_LISSENCEPHALY
RING_DERMOID_OF_CORNEA 1 RING_DERMOID_OF_CORNEA
CHILDHOOD_ABSENCE_EPILEPSY_TYPE_5 1 CHILDHOOD_ABSENCE_EPILEPSY_TYPE_5
CATARACT_POSTERIOR_POLAR_TYPE_2 1 CATARACT_POSTERIOR_POLAR_TYPE_2
ALVEOLAR_CAPILLARY_DYSPLASIA_WITH_MISALIGNMENT_OF_PULMONARY_VEINS 1 ALVEOLAR_CAPILLARY_DYSPLASIA_WITH_MISALIGNMENT_OF_PULMONARY_VEINS
AUTOSOMAL-DOMINANT_MICROCEPHALY_ASSOCIATED_WITH_LYMPHEDEMA_AND/OR_CHORIORETINOPATHY 1 AUTOSOMAL-DOMINANT_MICROCEPHALY_ASSOCIATED_WITH_LYMPHEDEMA_AND/OR_CHORIORETINOPATHY
METHYLMALONIC_ACIDURIA_AND_HOMOCYSTINURIA,_CBLJ_TYPE 1 METHYLMALONIC_ACIDURIA_AND_HOMOCYSTINURIA,_CBLJ_TYPE
INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_OPHN1-RELATED 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_OPHN1-RELATED
INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_91 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_91
MEDIUM_CHAIN_ACYL-COENZYME_A_DEHYDROGENASE_DEFICIENCY 1 MEDIUM_CHAIN_ACYL-COENZYME_A_DEHYDROGENASE_DEFICIENCY
SMAD3-RELATED_LOEYS-DIETZ_SYNDROME 1 SMAD3-RELATED_LOEYS-DIETZ_SYNDROME
INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_CASK-RELATED 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_CASK-RELATED
GLUTARIC_ACIDURIA_TYPE_2C 1 GLUTARIC_ACIDURIA_TYPE_2C
CHAR_SYNDROME 1 CHAR_SYNDROME
OLMSTED_SYNDROME 1 OLMSTED_SYNDROME
PERIVENTRICULAR_HETEROTOPIA_WITH_MICROCEPHALY 1 PERIVENTRICULAR_HETEROTOPIA_WITH_MICROCEPHALY
HYDROLETHALUS_SYNDROME_TYPE_1 1 HYDROLETHALUS_SYNDROME_TYPE_1
NESTOR-GUILLERMO_PROGERIA_SYNDROME 1 NESTOR-GUILLERMO_PROGERIA_SYNDROME
INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROMIC_X-LINKED_ZDHHC9-RELATED 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROMIC_X-LINKED_ZDHHC9-RELATED
FOXC1-related_Axenfeld-Rieger_syndrome 1 FOXC1-related_Axenfeld-Rieger_syndrome
GENERALIZED_EPILEPSY_AND_PAROXYSMAL_DYSKINESIA 1 GENERALIZED_EPILEPSY_AND_PAROXYSMAL_DYSKINESIA
CRANIOECTODERMAL_DYSPLASIA 1 CRANIOECTODERMAL_DYSPLASIA
TETRALOGY_OF_FALLOT 1 TETRALOGY_OF_FALLOT
HYPEREKPLEXIA 1 HYPEREKPLEXIA
CRANIOECTODERMAL_DYSPLASIA_4 1 CRANIOECTODERMAL_DYSPLASIA_4
CEP152-related_Developmental_Disorder 1 CEP152-related_Developmental_Disorder
DEAFNESS_AUTOSOMAL_DOMINANT_TYPE_39_WITH_DENTINOGENESIS_IMPERFECTA_1 1 DEAFNESS_AUTOSOMAL_DOMINANT_TYPE_39_WITH_DENTINOGENESIS_IMPERFECTA_1
CLCN7-RELATED_OSTEOPETROSIS 1 CLCN7-RELATED_OSTEOPETROSIS
MODERATE_SENSORINEURAL_HEARING_LOSS 1 MODERATE_SENSORINEURAL_HEARING_LOSS
CLUBBING_WITH_SKELETAL_DYSPLASIA_INC_ACROOSTEOLYSIS 1 CLUBBING_WITH_SKELETAL_DYSPLASIA_INC_ACROOSTEOLYSIS
MULTICENTRIC_CARPOTARSAL_OSTEOLYSIS_SYNDROME 1 MULTICENTRIC_CARPOTARSAL_OSTEOLYSIS_SYNDROME
COMBINED_OXIDATIVE_PHOSPHORYLATION_DEFICIENCY_7 1 COMBINED_OXIDATIVE_PHOSPHORYLATION_DEFICIENCY_7
POLYCYSTIC_KIDNEY_DISEASE,_AUTOSOMAL_RECESSIVE 1 POLYCYSTIC_KIDNEY_DISEASE,_AUTOSOMAL_RECESSIVE
SUBCORTICAL_BAND_HETEROTOPIA_X-LINKED 1 SUBCORTICAL_BAND_HETEROTOPIA_X-LINKED
KENNY-CAFFEY_SYNDROME 1 KENNY-CAFFEY_SYNDROME
AUTOSOMAL-RECESSIVE_CONE-ROD_DYSTROPHY 1 AUTOSOMAL-RECESSIVE_CONE-ROD_DYSTROPHY
3-METHYLCROTONYL-COA_CARBOXYLASE_2_DEFICIENCY 1 3-METHYLCROTONYL-COA_CARBOXYLASE_2_DEFICIENCY
CRX-RELATED_LEBER_CONGENITAL_AMAUROSIS_LEBER_CONGENITAL_AMAUROSIS_7 1 CRX-RELATED_LEBER_CONGENITAL_AMAUROSIS_LEBER_CONGENITAL_AMAUROSIS_7
CATARACT,_AUTOSOMAL_RECESSIVE_CONGENITAL_1 1 CATARACT,_AUTOSOMAL_RECESSIVE_CONGENITAL_1
LYMPHEDEMA,_HEREDITARY,_IC 1 LYMPHEDEMA,_HEREDITARY,_IC
SEVERE_CONGENITAL_NEUTROPENIA 1 SEVERE_CONGENITAL_NEUTROPENIA
OROTIC_ACIDURIA_TYPE_1 1 OROTIC_ACIDURIA_TYPE_1
MICROPHTHALMIA_ISOLATED_TYPE_2 1 MICROPHTHALMIA_ISOLATED_TYPE_2
PROXIMAL_RENAL_TUBULAR_ACIDOSIS_WITH_OCULAR_ABNORMALITIES 1 PROXIMAL_RENAL_TUBULAR_ACIDOSIS_WITH_OCULAR_ABNORMALITIES
BAMFORTH-LAZARUS_SYNDROME 1 BAMFORTH-LAZARUS_SYNDROME
HERMANSKY-PUDLAK_SYNDROME_9 1 HERMANSKY-PUDLAK_SYNDROME_9
MYOPATHY_MYOFIBRILLAR_TYPE_4 1 MYOPATHY_MYOFIBRILLAR_TYPE_4
ARL6-related_retinal_dystrophy 1 ARL6-related_retinal_dystrophy
SPTAN1-related_neurodevelopmental_disorder_with_epilepsy_and_spastic_paraplegia 1 SPTAN1-related_neurodevelopmental_disorder_with_epilepsy_and_spastic_paraplegia
ABCB11-RELATED_INTRAHEPATIC_CHOLESTASIS 1 ABCB11-RELATED_INTRAHEPATIC_CHOLESTASIS
ACUTE_HEPATIC_PORPHYRIA 1 ACUTE_HEPATIC_PORPHYRIA
ATAXIA,_POSTERIOR_COLUMN,_WITH_RETINITIS_PIGMENTOSA 1 ATAXIA,_POSTERIOR_COLUMN,_WITH_RETINITIS_PIGMENTOSA
JOUBERT_SYNDROME_2 1 JOUBERT_SYNDROME_2
HYPOTHYROIDISM,_CONGENITAL,_NONGOITROUS,_6 1 HYPOTHYROIDISM,_CONGENITAL,_NONGOITROUS,_6
CATARACT_AUTOSOMAL_DOMINANT_BFSP2-RELATED 1 CATARACT_AUTOSOMAL_DOMINANT_BFSP2-RELATED
MICROCEPHALY_AND_CHORIORETINOPATHY_WITH_OR_WITHOUT_INTELLECTUAL_DEVELOPMENTAL_DISORDER 1 MICROCEPHALY_AND_CHORIORETINOPATHY_WITH_OR_WITHOUT_INTELLECTUAL_DEVELOPMENTAL_DISORDER
ATYPICAL_NOONAN_SYNDROME 1 ATYPICAL_NOONAN_SYNDROME
ECTODERMAL_DYSPLASIA-SYNDACTYLY_SYNDROME_1 1 ECTODERMAL_DYSPLASIA-SYNDACTYLY_SYNDROME_1
NYSTAGMUS_1,_CONGENITAL,_X-LINKED 1 NYSTAGMUS_1,_CONGENITAL,_X-LINKED
CONGENITAL_SYSTEMIC_GLUTAMINE_DEFICIENCY 1 CONGENITAL_SYSTEMIC_GLUTAMINE_DEFICIENCY
MEIER-GORLIN_SYNDROME_2 1 MEIER-GORLIN_SYNDROME_2
3MC_SYNDROME_2 1 3MC_SYNDROME_2
Periventricular_nodular_heterotopia_with_ID,_cleft_palate_and_2.3_toe_syndactyly 1 Periventricular_nodular_heterotopia_with_ID,_cleft_palate_and_2.3_toe_syndactyly
EPILEPSY,_FOCAL,_WITH_SPEECH_DISORDER_AND_WITH_OR_WITHOUT_INTELLECTUAL_DEVELOPMENTAL_DISORDER 1 EPILEPSY,_FOCAL,_WITH_SPEECH_DISORDER_AND_WITH_OR_WITHOUT_INTELLECTUAL_DEVELOPMENTAL_DISORDER
FRAGILE_X_TREMOR/ATAXIA_SYNDROME 1 FRAGILE_X_TREMOR/ATAXIA_SYNDROME
MYOCLONIC_EPILEPSY,_INFANTILE,_FAMILIAL 1 MYOCLONIC_EPILEPSY,_INFANTILE,_FAMILIAL
Macrocephaly_with_intellectual_disability 1 Macrocephaly_with_intellectual_disability
WDR45-RELATED_NEURODEGENERATION_WITH_BRAIN_IRON_ACCUMULATION 1 WDR45-RELATED_NEURODEGENERATION_WITH_BRAIN_IRON_ACCUMULATION
HEREDITARY_SPASTIC_PARAPARESIS 1 HEREDITARY_SPASTIC_PARAPARESIS
BRACHYDACTYLY,_TYPE_B1 1 BRACHYDACTYLY,_TYPE_B1
SIALIDOSIS 1 SIALIDOSIS
MICROCEPHALY,_PROGRESSIVE,_SEIZURES,_AND_CEREBRAL_AND_CEREBELLAR_ATROPHY 1 MICROCEPHALY,_PROGRESSIVE,_SEIZURES,_AND_CEREBRAL_AND_CEREBELLAR_ATROPHY
CEREBRO-COSTO-MANDIBULAR_SYNDROME 1 CEREBRO-COSTO-MANDIBULAR_SYNDROME
GALACTOSIALIDOSIS 1 GALACTOSIALIDOSIS
DIAPHANOSPONDYLODYSOSTOSIS 1 DIAPHANOSPONDYLODYSOSTOSIS
THIAMINE_METABOLISM_DYSFUNCTION_SYNDROME_2 1 THIAMINE_METABOLISM_DYSFUNCTION_SYNDROME_2
DIAPHRAGMATIC_HERNIA_3 1 DIAPHRAGMATIC_HERNIA_3
VESICOURETERAL_REFLUX_TYPE_3 1 VESICOURETERAL_REFLUX_TYPE_3
INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AUTOSOMAL_DOMINANT_6 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AUTOSOMAL_DOMINANT_6
SENGERS_SYNDROME 1 SENGERS_SYNDROME
MYOPATHY,_MYOFIBRILLAR,_FATAL_INFANTILE_HYPERTONIC,_ALPHA-B_CRYSTALLIN-RELATED 1 MYOPATHY,_MYOFIBRILLAR,_FATAL_INFANTILE_HYPERTONIC,_ALPHA-B_CRYSTALLIN-RELATED
INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_46 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_46
PSEUDOHYPOPARATHYROIDISM_TYPE_1B 1 PSEUDOHYPOPARATHYROIDISM_TYPE_1B
MUCOPOLYSACCHARIDOSIS_TYPE_3D 1 MUCOPOLYSACCHARIDOSIS_TYPE_3D
SHORT-RIB_POLYDACTYLY 1 SHORT-RIB_POLYDACTYLY
EPILEPTIC_ENCEPHALOPATHY,_EARLY_INFANTILE,_28 1 EPILEPTIC_ENCEPHALOPATHY,_EARLY_INFANTILE,_28
PARTINGTON_SYNDROME 1 PARTINGTON_SYNDROME
CATARACT_17,_MULTIPLE_TYPES,_MONOALLELIC 1 CATARACT_17,_MULTIPLE_TYPES,_MONOALLELIC
X-LINKED_CREATINE_DEFICIENCY_SYNDROME 1 X-LINKED_CREATINE_DEFICIENCY_SYNDROME
FAMILIAL_PARTIAL_LIPODYSTROPHY_TYPE_2 1 FAMILIAL_PARTIAL_LIPODYSTROPHY_TYPE_2
SUCCINATE_SEMIALDEHYDE_DEHYDROGENASE_DEFICIENCY 1 SUCCINATE_SEMIALDEHYDE_DEHYDROGENASE_DEFICIENCY
PORENCEPHALY_1 1 PORENCEPHALY_1
MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_CONGENITAL_WITH_BRAIN_AND_EYE_ANOMALIES_TYPE_A1 1 MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_CONGENITAL_WITH_BRAIN_AND_EYE_ANOMALIES_TYPE_A1
BRACHYDACTYLY,_TYPE_E2 1 BRACHYDACTYLY,_TYPE_E2
CONE-ROD_DYSTROPHY_16 1 CONE-ROD_DYSTROPHY_16
CONGENITAL_GENERALIZED_LIPODYSTROPHY_TYPE_3 1 CONGENITAL_GENERALIZED_LIPODYSTROPHY_TYPE_3
SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_WITH_ABNORMAL_DENTITION 1 SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_WITH_ABNORMAL_DENTITION
SECKEL_SYNDROME_6 1 SECKEL_SYNDROME_6
Proximal_spinal_muscular_atrophy_with_brain_anomalies 1 Proximal_spinal_muscular_atrophy_with_brain_anomalies
HYPOTRICHOSIS_SIMPLEX_OF_THE_SCALP_2 1 HYPOTRICHOSIS_SIMPLEX_OF_THE_SCALP_2
EHLERS-DANLOS_SYNDROME_PROGEROID_TYPE 1 EHLERS-DANLOS_SYNDROME_PROGEROID_TYPE
SYNDROMIC_MR_WITH_ATAXIA,_DYSARTHRIA_AND_EPILEPSY 1 SYNDROMIC_MR_WITH_ATAXIA,_DYSARTHRIA_AND_EPILEPSY
MEGALOBLASTIC_ANEMIA_DUE_TO_DIHYDROFOLATE_REDUCTASE_DEFICIENCY 1 MEGALOBLASTIC_ANEMIA_DUE_TO_DIHYDROFOLATE_REDUCTASE_DEFICIENCY
HARS1-related_Usher_syndrome 1 HARS1-related_Usher_syndrome
OSTEOPETROSIS_AUTOSOMAL_RECESSIVE_TYPE_3 1 OSTEOPETROSIS_AUTOSOMAL_RECESSIVE_TYPE_3
COCOON_SYNDROME 1 COCOON_SYNDROME
CATARACT_5,_MULTIPLE_TYPES 1 CATARACT_5,_MULTIPLE_TYPES
MIRROR_MOVEMENTS_2 1 MIRROR_MOVEMENTS_2
PFEIFFER_SYNDROME 1 PFEIFFER_SYNDROME
KRABBE_DISEASE 1 KRABBE_DISEASE
AICARDI-GOUTIERES_SYNDROME_2 1 AICARDI-GOUTIERES_SYNDROME_2
ADRENOLEUKODYSTROPHY_PSEUDONEONATAL 1 ADRENOLEUKODYSTROPHY_PSEUDONEONATAL
INTELLECTUAL_DEVELOPMENTAL_DISORDER_AUTOSOMAL_DOMINANT_TYPE_3 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER_AUTOSOMAL_DOMINANT_TYPE_3
FEINGOLD_SYNDROME 1 FEINGOLD_SYNDROME
DESMOSTEROLOSIS 1 DESMOSTEROLOSIS
SKELETAL_DEFECTS_GENITAL_HYPOPLASIA_AND_INTELLECTUAL_DEVELOPMENTAL_DISORDER 1 SKELETAL_DEFECTS_GENITAL_HYPOPLASIA_AND_INTELLECTUAL_DEVELOPMENTAL_DISORDER
ALEXANDER_DISEASE 1 ALEXANDER_DISEASE
HESX1-RELATED_COMBINED_PITUITARY_HORMONE_DEFICIENCY 1 HESX1-RELATED_COMBINED_PITUITARY_HORMONE_DEFICIENCY
EPILEPTIC_ENCEPHALOPATHY,_EARLY_INFANTILE,_3 1 EPILEPTIC_ENCEPHALOPATHY,_EARLY_INFANTILE,_3
ALAGILLE_SYNDROME 1 ALAGILLE_SYNDROME
SEX_REVERSAL_TYPE_3 1 SEX_REVERSAL_TYPE_3
JENSEN_SYNDROME 1 JENSEN_SYNDROME
VAN_DEN_ENDE-GUPTA_SYNDROME 1 VAN_DEN_ENDE-GUPTA_SYNDROME
WOODHOUSE-SAKATI_SYNDROME 1 WOODHOUSE-SAKATI_SYNDROME
HOMOCYSTINURIA-MEGALOBLASTIC_ANEMIA,_CBL_E_TYPE 1 HOMOCYSTINURIA-MEGALOBLASTIC_ANEMIA,_CBL_E_TYPE
BARDET-BIEDL_SYNDROME_TYPE_8 1 BARDET-BIEDL_SYNDROME_TYPE_8
LEUKODYSTROPHY_HYPOMYELINATING_TYPE_1 1 LEUKODYSTROPHY_HYPOMYELINATING_TYPE_1
6-PYRUVOYLTETRAHYDROPTERIN_SYNTHASE_DEFICIENCY 1 6-PYRUVOYLTETRAHYDROPTERIN_SYNTHASE_DEFICIENCY
SCHMID_TYPE_METAPHYSEAL_CHONDRODYSPLASIA 1 SCHMID_TYPE_METAPHYSEAL_CHONDRODYSPLASIA
CONGENITAL_CONTRACTURAL_ARACHNODACTYLY 1 CONGENITAL_CONTRACTURAL_ARACHNODACTYLY
NONSYNDROMIC_INTELLECTUAL_DEVELOPMENTAL_DISORDER 1 NONSYNDROMIC_INTELLECTUAL_DEVELOPMENTAL_DISORDER
CHONDRODYSPLASIA_WITH_JOINT_DISLOCATIONS,_GRAPP_TYPE 1 CHONDRODYSPLASIA_WITH_JOINT_DISLOCATIONS,_GRAPP_TYPE
INTELLECTUAL_DEVELOPMENTAL_DISORDER,_X-LINKED_99 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER,_X-LINKED_99
TYROSINEMIA_TYPE_3 1 TYROSINEMIA_TYPE_3
PRIMARY_CILIARY_DYSKINEASIA 1 PRIMARY_CILIARY_DYSKINEASIA
INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AUTOSOMAL_RECESSIVE_48 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AUTOSOMAL_RECESSIVE_48
IMMUNODEFICIENCY-CENTROMERIC_INSTABILITY-FACIAL_ANOMALIES_SYNDROME_1 1 IMMUNODEFICIENCY-CENTROMERIC_INSTABILITY-FACIAL_ANOMALIES_SYNDROME_1
FRAGILE_X_SYNDROME 1 FRAGILE_X_SYNDROME
CORNELIA_DE_LANGE_SYNDROME_TYPE_3 1 CORNELIA_DE_LANGE_SYNDROME_TYPE_3
OPHTHALMOACROMELIC_SYNDROME 1 OPHTHALMOACROMELIC_SYNDROME
DNA2-related_microcephalic_primordial_dwarfism_with_or_without_poikiloderma_and_cataracts 1 DNA2-related_microcephalic_primordial_dwarfism_with_or_without_poikiloderma_and_cataracts
DONNAI-BARROW_SYNDROME 1 DONNAI-BARROW_SYNDROME
HENNEKAM_LYMPHANGIECTASIA-LYMPHEDEMA_SYNDROME 1 HENNEKAM_LYMPHANGIECTASIA-LYMPHEDEMA_SYNDROME
Short-rib_thoracic_dysplasia_3_with_or_without_polydactyly 1 Short-rib_thoracic_dysplasia_3_with_or_without_polydactyly
MICROCEPHALIC_OSTEODYSPLASTIC_PRIMORDIAL_DWARFISM,_TYPE_I 1 MICROCEPHALIC_OSTEODYSPLASTIC_PRIMORDIAL_DWARFISM,_TYPE_I
SHORT_CHAIN_ACYL-COA_DEHYDROGENASE_DEFICIENCY 1 SHORT_CHAIN_ACYL-COA_DEHYDROGENASE_DEFICIENCY
ADENYLOSUCCINASE_DEFICIENCY 1 ADENYLOSUCCINASE_DEFICIENCY
COG1-CDG 1 COG1-CDG
ICHTHYOSIS,_SPASTIC_QUADRIPLEGIA,_AND_INTELLECTUAL_DEVELOPMENTAL_DISORDER 1 ICHTHYOSIS,_SPASTIC_QUADRIPLEGIA,_AND_INTELLECTUAL_DEVELOPMENTAL_DISORDER
NDST1-related_intellectual_disability_with_or_without_seizures 1 NDST1-related_intellectual_disability_with_or_without_seizures
NONSYNDROMIC_AUTOSOMAL-RECESSIVE_INTELLECTUAL_DISABILITY 1 NONSYNDROMIC_AUTOSOMAL-RECESSIVE_INTELLECTUAL_DISABILITY
CORTICAL_DYSPLASIA,_COMPLEX,_WITH_OTHER_BRAIN_MALFORMATIONS_6 1 CORTICAL_DYSPLASIA,_COMPLEX,_WITH_OTHER_BRAIN_MALFORMATIONS_6
ARTHROGRYPOSIS_MULTIPLEX_CONGENITA_AND_INTELLECTUAL_DISABILITY,_hemizygous 1 ARTHROGRYPOSIS_MULTIPLEX_CONGENITA_AND_INTELLECTUAL_DISABILITY,_hemizygous
CEROID_LIPOFUSCINOSIS,_NEURONAL,_6 1 CEROID_LIPOFUSCINOSIS,_NEURONAL,_6
PHELAN-MCDERMID_SYNDROME 1 PHELAN-MCDERMID_SYNDROME
PYRUVATE_DEHYDROGENASE_E1-ALPHA_DEFICIENCY_IN_FEMALES 1 PYRUVATE_DEHYDROGENASE_E1-ALPHA_DEFICIENCY_IN_FEMALES
HYPOMAGNESEMIA_5,_RENAL,_WITH_OCULAR_INVOLVEMENT 1 HYPOMAGNESEMIA_5,_RENAL,_WITH_OCULAR_INVOLVEMENT
ALS2-RELATED_DISORDERS 1 ALS2-RELATED_DISORDERS
TRIPHALANGEAL_THUMB-POLYSYNDACTYLY_SYNDROME 1 TRIPHALANGEAL_THUMB-POLYSYNDACTYLY_SYNDROME
MULTIPLE_MITOCHONDRIAL_DYSFUNCTIONS_SYNDROME_2 1 MULTIPLE_MITOCHONDRIAL_DYSFUNCTIONS_SYNDROME_2
TCF12-related_neurodevelopmental_disorder_with_coronal_craniosynostosis 1 TCF12-related_neurodevelopmental_disorder_with_coronal_craniosynostosis
MITOCHONDRIAL_COMPLEX_III_DEFICIENCY 1 MITOCHONDRIAL_COMPLEX_III_DEFICIENCY
LEUKODYSTROPHY,_HYPOMYELINATING,_2 1 LEUKODYSTROPHY,_HYPOMYELINATING,_2
SLC12A5-related_epilepsy_of_infancy_with_migrating_focal_seizures 1 SLC12A5-related_epilepsy_of_infancy_with_migrating_focal_seizures
CURRARINO_SYNDROME 1 CURRARINO_SYNDROME
ADENOSINE_DEAMINASE_DEFICIENCY 1 ADENOSINE_DEAMINASE_DEFICIENCY
HYPERLYSINEMIA 1 HYPERLYSINEMIA
PANCREATIC_AGENESIS,_DIAPHRAGMATIC_HERNIA_AND_CONGENITAL_HEART_DEFECTS 1 PANCREATIC_AGENESIS,_DIAPHRAGMATIC_HERNIA_AND_CONGENITAL_HEART_DEFECTS
BRANCHIOOCULOFACIAL_SYNDROME 1 BRANCHIOOCULOFACIAL_SYNDROME
GHOSAL_HEMATODIAPHYSEAL_SYNDROME 1 GHOSAL_HEMATODIAPHYSEAL_SYNDROME
LHX4-RELATED_COMBINED_PITUITARY_HORMONE_DEFICIENCY 1 LHX4-RELATED_COMBINED_PITUITARY_HORMONE_DEFICIENCY
INTELLECTUAL_DEVELOPMENTAL_DISORDER_AUTOSOMAL_RECESSIVE_TYPE_18 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER_AUTOSOMAL_RECESSIVE_TYPE_18
COL11A1-related_fibrochondrogenesis 1 COL11A1-related_fibrochondrogenesis
SYSTEMIC_PRIMARY_CARNITINE_DEFICIENCY 1 SYSTEMIC_PRIMARY_CARNITINE_DEFICIENCY
PARAMYOTONIA_CONGENITA_OF_VON_EULENBURG 1 PARAMYOTONIA_CONGENITA_OF_VON_EULENBURG
FAMILIAL_HYPERINSULINISM 1 FAMILIAL_HYPERINSULINISM
PHOSPHOSERINE_PHOSPHATASE_DEFICIENCY 1 PHOSPHOSERINE_PHOSPHATASE_DEFICIENCY
UBE2A-RELATED_X-LINKED_SYNDROMIC_INTELLECTUAL_DEVELOPMENTAL_DISORDER 1 UBE2A-RELATED_X-LINKED_SYNDROMIC_INTELLECTUAL_DEVELOPMENTAL_DISORDER
NAIL_DISORDER_NON-SYNDROMIC_CONGENITAL_TYPE_10 1 NAIL_DISORDER_NON-SYNDROMIC_CONGENITAL_TYPE_10
PRIMARY_MICROCEPHALY_AND_DISTURBED_CENTROSOMAL_FUNCTION 1 PRIMARY_MICROCEPHALY_AND_DISTURBED_CENTROSOMAL_FUNCTION
DEAFNESS_WITH_LABYRINTHINE_APLASIA,_MICROTIA_AND_MICRODONTIA 1 DEAFNESS_WITH_LABYRINTHINE_APLASIA,_MICROTIA_AND_MICRODONTIA
WALKER_WARBURG_SYNDROME 1 WALKER_WARBURG_SYNDROME
STAR_SYNDROME 1 STAR_SYNDROME
DYSKERATOSIS_CONGENITA,_AUTOSOMAL_RECESSIVE_3 1 DYSKERATOSIS_CONGENITA,_AUTOSOMAL_RECESSIVE_3
46XY_SEX_REVERSAL_6 1 46XY_SEX_REVERSAL_6
HOLT-ORAM_SYNDROME 1 HOLT-ORAM_SYNDROME
ATELOSTEOGENESIS_TYPE_3 1 ATELOSTEOGENESIS_TYPE_3
STICKLER_SYNDROME,_TYPE_V 1 STICKLER_SYNDROME,_TYPE_V
PEROXISOME_BIOGENESIS_DISORDER_COMPLEMENTATION_GROUP_12 1 PEROXISOME_BIOGENESIS_DISORDER_COMPLEMENTATION_GROUP_12
CATARACT,_NUCLEAR 1 CATARACT,_NUCLEAR
CHILDHOOD-ONSET_HYPOGAMMAGLOBULINEMIA 1 CHILDHOOD-ONSET_HYPOGAMMAGLOBULINEMIA
CORTICAL_DYSPLASIA,_COMPLEX,_WITH_OTHER_BRAIN_MALFORMATIONS_2 1 CORTICAL_DYSPLASIA,_COMPLEX,_WITH_OTHER_BRAIN_MALFORMATIONS_2
3-METHYLGLUTACONIC_ACIDURIA_TYPE_1 1 3-METHYLGLUTACONIC_ACIDURIA_TYPE_1
BH4-DEFICIENT_HYPERPHENYLALANINEMIA_C 1 BH4-DEFICIENT_HYPERPHENYLALANINEMIA_C
KABUKI_SYNDROME 1 KABUKI_SYNDROME
NEUROMYOTONIA_AND_AXONAL_NEUROPATHY,_AUTOSOMAL_RECESSIVE 1 NEUROMYOTONIA_AND_AXONAL_NEUROPATHY,_AUTOSOMAL_RECESSIVE
Cataract_2,_multiple_types 1 Cataract_2,_multiple_types
ALG6-CDG 1 ALG6-CDG
ARID1A-related_Coffin-Siris_Syndrome 1 ARID1A-related_Coffin-Siris_Syndrome
46XY_SEX_REVERSAL_1 1 46XY_SEX_REVERSAL_1
CATARACT_CONGENITAL_ZONULAR_WITH_SUTURAL_OPACITIES 1 CATARACT_CONGENITAL_ZONULAR_WITH_SUTURAL_OPACITIES
SMITH-MAGENIS_SYNDROME 1 SMITH-MAGENIS_SYNDROME
C_SYNDROME 1 C_SYNDROME
EARLY_INFANTILE_EPILEPTIC_ENCEPHALOPATHY_AND_MICROCEPHALY 1 EARLY_INFANTILE_EPILEPTIC_ENCEPHALOPATHY_AND_MICROCEPHALY
CORTICAL_DYSPLASIA,_COMPLEX,_WITH_OTHER_BRAIN_MALFORMATIONS_1 1 CORTICAL_DYSPLASIA,_COMPLEX,_WITH_OTHER_BRAIN_MALFORMATIONS_1
INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AUTOSOMAL_DOMINANT_23 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AUTOSOMAL_DOMINANT_23
PRIMARY_CILLARY_DYSKINEASIA 1 PRIMARY_CILLARY_DYSKINEASIA
KEPPEN-LUBINSKY_SYNDROME 1 KEPPEN-LUBINSKY_SYNDROME
AUTOSOMAL-RECESSIVE_MICROCEPHALY_WITH_CHORIORETINOPATHY. 1 AUTOSOMAL-RECESSIVE_MICROCEPHALY_WITH_CHORIORETINOPATHY.
SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_MISSOURI_TYPE 1 SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_MISSOURI_TYPE
RPS19-RELATED_DIAMOND-BLACKFAN_ANEMIA 1 RPS19-RELATED_DIAMOND-BLACKFAN_ANEMIA
GLYCOGEN_STORAGE_DISEASE_TYPE_II 1 GLYCOGEN_STORAGE_DISEASE_TYPE_II
INTELLECTUAL_DEVELOPMENTAL_DISORDER_AUTOSOMAL_DOMINANT_TYPE_4 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER_AUTOSOMAL_DOMINANT_TYPE_4
CHRNA2-RELATED_NOCTURNAL_FRONTAL_LOBE_EPILEPSY,_AUTOSOMAL_DOMINANT 1 CHRNA2-RELATED_NOCTURNAL_FRONTAL_LOBE_EPILEPSY,_AUTOSOMAL_DOMINANT
PRIMARY_FAILURE_OF_TOOTH_ERUPTION 1 PRIMARY_FAILURE_OF_TOOTH_ERUPTION
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS_SYNDROME_1 1 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS_SYNDROME_1
SCALP-EAR-NIPPLE_SYNDROME 1 SCALP-EAR-NIPPLE_SYNDROME
RETINAL_NON-ATTACHMENT_CONGENITAL_NON-SYNDROMIC 1 RETINAL_NON-ATTACHMENT_CONGENITAL_NON-SYNDROMIC
MITOCHONDRIAL_PROGRESSIVE_MYOPATHY_WITH_CONGENITAL_CATARACT_HEARING_LOSS_AND_DEVELOPMENTAL_DELAY_(MPMCHD 1 MITOCHONDRIAL_PROGRESSIVE_MYOPATHY_WITH_CONGENITAL_CATARACT_HEARING_LOSS_AND_DEVELOPMENTAL_DELAY_(MPMCHD
ATRIAL_SEPTAL_DEFECT_TYPE_4 1 ATRIAL_SEPTAL_DEFECT_TYPE_4
CONGENITAL_DISORDER_OF_GLYCOSYLATION,_TYPE_IIK 1 CONGENITAL_DISORDER_OF_GLYCOSYLATION,_TYPE_IIK
FG_SYNDROME_TYPE_4 1 FG_SYNDROME_TYPE_4
HYCC-related_leukodystrophy,_hypomyelinating 1 HYCC-related_leukodystrophy,_hypomyelinating
RENAL_CYSTS_AND_DIABETES_SYNDROME 1 RENAL_CYSTS_AND_DIABETES_SYNDROME
THROMBOCYTOPENIA_2 1 THROMBOCYTOPENIA_2
ALPHA-THALASSEMIA_INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROME_X-LINKED_NON-DELETION_TYPE 1 ALPHA-THALASSEMIA_INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROME_X-LINKED_NON-DELETION_TYPE
AGENESIS_OF_THE_CORPUS_CALLOSUM_WITH_PERIPHERAL_NEUROPATHY 1 AGENESIS_OF_THE_CORPUS_CALLOSUM_WITH_PERIPHERAL_NEUROPATHY
Epileptic_Encephalopathy_due_to_congenital_disorder_of_glycosylation 1 Epileptic_Encephalopathy_due_to_congenital_disorder_of_glycosylation
SNYDER-ROBINSON_SYNDROME 1 SNYDER-ROBINSON_SYNDROME
GLUTAMATE_FORMIMINOTRANSFERASE_DEFICIENCY 1 GLUTAMATE_FORMIMINOTRANSFERASE_DEFICIENCY
BENIGN_NEONATAL_EPILEPSY_TYPE_1 1 BENIGN_NEONATAL_EPILEPSY_TYPE_1
CANAVAN_DISEASE 1 CANAVAN_DISEASE
INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROMIC_X-LINKED_TYPE_14 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROMIC_X-LINKED_TYPE_14
AICARDI-GOUTIERES_SYNDROME 1 AICARDI-GOUTIERES_SYNDROME
GENERALIZED_EPILEPSY_WITH_FEBRILE_SEIZURES_PLUS,_TYPE_9 1 GENERALIZED_EPILEPSY_WITH_FEBRILE_SEIZURES_PLUS,_TYPE_9
STICKLER_SYNDROME_TYPE_1_NON-SYNDROMIC_OCULAR 1 STICKLER_SYNDROME_TYPE_1_NON-SYNDROMIC_OCULAR
ACHONDROGENESIS_TYPE_1B 1 ACHONDROGENESIS_TYPE_1B
BRANCHIOOTORENAL_SYNDROME_TYPE_2 1 BRANCHIOOTORENAL_SYNDROME_TYPE_2
AXENFELD-RIEGER_SYNDROME_TYPE_1 1 AXENFELD-RIEGER_SYNDROME_TYPE_1
INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROMIC_X-LINKED_CHRISTIANSON_TYPE 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROMIC_X-LINKED_CHRISTIANSON_TYPE
OGDEN_SYNDROME 1 OGDEN_SYNDROME
MYOPATHY_WITH_EXTRAPYRAMIDAL_SIGNS 1 MYOPATHY_WITH_EXTRAPYRAMIDAL_SIGNS
EARLY-ONSET_EPILEPTIC_ENCEPHALOPATHY_WITH_PERSISTENT_MYELINATION_DEFECT. 1 EARLY-ONSET_EPILEPTIC_ENCEPHALOPATHY_WITH_PERSISTENT_MYELINATION_DEFECT.
EPG5-related_immunodeficiency,_cardiomyopathy,_cataract,_hypopigmentation,_and_absent_corpus_callosum 1 EPG5-related_immunodeficiency,_cardiomyopathy,_cataract,_hypopigmentation,_and_absent_corpus_callosum
CENANI-LENZ_SYNDACTYLY_SYNDROME 1 CENANI-LENZ_SYNDACTYLY_SYNDROME
BRANCHIOOTIC_SYNDROME_TYPE_3 1 BRANCHIOOTIC_SYNDROME_TYPE_3
SCHINZEL-GIEDION_MIDFACE_RETRACTION_SYNDROME 1 SCHINZEL-GIEDION_MIDFACE_RETRACTION_SYNDROME
NEUTRAL_LIPID_STORAGE_DISEASE_WITH_MYOPATHY 1 NEUTRAL_LIPID_STORAGE_DISEASE_WITH_MYOPATHY
CEREBRAL_PALSY_SPASTIC_QUADRIPLEGIC_TYPE_5 1 CEREBRAL_PALSY_SPASTIC_QUADRIPLEGIC_TYPE_5
PONTOCEREBELLAR_HYPOPLASIA,_TYPE_10 1 PONTOCEREBELLAR_HYPOPLASIA,_TYPE_10
FACIAL_PARESIS,_HEREDITARY_CONGENITAL,_3 1 FACIAL_PARESIS,_HEREDITARY_CONGENITAL,_3
GLUTARIC_ACIDURIA_TYPE_2A 1 GLUTARIC_ACIDURIA_TYPE_2A
PONTOCEREBELLAR_HYPOPLASIA_AND_MICROCEPHALY 1 PONTOCEREBELLAR_HYPOPLASIA_AND_MICROCEPHALY
CLEFT_LIP/PALATE-ECTODERMAL_DYSPLASIA_SYNDROME 1 CLEFT_LIP/PALATE-ECTODERMAL_DYSPLASIA_SYNDROME
LEFT_VENTRICULAR_OUTFLOW_TRACT_OBSTRUCTION 1 LEFT_VENTRICULAR_OUTFLOW_TRACT_OBSTRUCTION
CONGENITAL_ICHTHYOSIS 1 CONGENITAL_ICHTHYOSIS
PEROXISOME_BIOGENESIS_DISORDER_COMPLEMENTATION_GROUP_3 1 PEROXISOME_BIOGENESIS_DISORDER_COMPLEMENTATION_GROUP_3
MULTIPLE_CONGENITAL_ANOMALIES-HYPOTONIA-SEIZURES_SYNDROME_2 1 MULTIPLE_CONGENITAL_ANOMALIES-HYPOTONIA-SEIZURES_SYNDROME_2
JERVELL_AND_LANGE-NIELSEN_SYNDROME_TYPE_1 1 JERVELL_AND_LANGE-NIELSEN_SYNDROME_TYPE_1
RETINITIS_PIGMENTOSA_54 1 RETINITIS_PIGMENTOSA_54
BIRK-BAREL_SYNDROME 1 BIRK-BAREL_SYNDROME
NEONATAL_EPILEPSY_SPECTRUM 1 NEONATAL_EPILEPSY_SPECTRUM
CEREBELLAR_ATAXIA_INTELLECTUAL_DEVELOPMENTAL_DISORDER_AND_DYSEQUILIBRIUM_SYNDROME_TYPE_3 1 CEREBELLAR_ATAXIA_INTELLECTUAL_DEVELOPMENTAL_DISORDER_AND_DYSEQUILIBRIUM_SYNDROME_TYPE_3
INFANTILE_HYPERTROPHIC_CARDIOMYOPATHY,_LACTIC_ACIDOSIS,_AND_ISOLATED_COMPLEX_I_DEFICIENCY 1 INFANTILE_HYPERTROPHIC_CARDIOMYOPATHY,_LACTIC_ACIDOSIS,_AND_ISOLATED_COMPLEX_I_DEFICIENCY
SAETHRE-CHOTZEN_SYNDROME 1 SAETHRE-CHOTZEN_SYNDROME
SPINOCEREBELLAR_ATAXIA,_AUTOSOMAL_RECESSIVE_8 1 SPINOCEREBELLAR_ATAXIA,_AUTOSOMAL_RECESSIVE_8
MECONIUM_ILEUS 1 MECONIUM_ILEUS
3-M_SYNDROME_2 1 3-M_SYNDROME_2
NICOLAIDES-BARAITSER_SYNDROME 1 NICOLAIDES-BARAITSER_SYNDROME
MICROPHTHALMIA_AND_DIAPHRAGMATIC_HERNIA 1 MICROPHTHALMIA_AND_DIAPHRAGMATIC_HERNIA
METHYLMALONIC_ACIDURIA_TYPE_CBLB 1 METHYLMALONIC_ACIDURIA_TYPE_CBLB
INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_72_(MRX72)_+/-_PARKINSONS 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_72_(MRX72)_+/-_PARKINSONS
CAUDAL_DUPLICATION_ANOMALY 1 CAUDAL_DUPLICATION_ANOMALY
METHYLENETETRAHYDROFOLATE_REDUCTASE_DEFICIENCY 1 METHYLENETETRAHYDROFOLATE_REDUCTASE_DEFICIENCY
3-HYDROXY-3-METHYLGLUTARYL-COENZYME_A_LYASE_DEFICIENCY 1 3-HYDROXY-3-METHYLGLUTARYL-COENZYME_A_LYASE_DEFICIENCY
AGAMMAGLOBULINEMIA_7,_AUTOSOMAL_RECESSIVE 1 AGAMMAGLOBULINEMIA_7,_AUTOSOMAL_RECESSIVE
GLYCOGEN_STORAGE_DISEASE_XII 1 GLYCOGEN_STORAGE_DISEASE_XII
GALLOWAY-MOWAT_SYNDROME:_MICROCEPHALY_AND_STEROID-RESISTANT_NEPHROTIC_SYNDROME 1 GALLOWAY-MOWAT_SYNDROME:_MICROCEPHALY_AND_STEROID-RESISTANT_NEPHROTIC_SYNDROME
LACTICACIDEMIA_DUE_TO_PDX1_DEFICIENCY 1 LACTICACIDEMIA_DUE_TO_PDX1_DEFICIENCY
HAJDU-CHENEY_SYNDROME 1 HAJDU-CHENEY_SYNDROME
IMMUNODEFICIENCY,_COMMON_VARIABLE,_2 1 IMMUNODEFICIENCY,_COMMON_VARIABLE,_2
PETERS_ANOMALY 1 PETERS_ANOMALY
MUCOPOLYSACCHARIDOSIS_TYPE_6 1 MUCOPOLYSACCHARIDOSIS_TYPE_6
ENCEPHALOPATHY_ASSOCIATED_WITH_MULTIPLE_OXIDATIVE_PHOSPHORYLATION_COMPLEX_DEFICIENCIES_AND_A_MITOCHONDRIAL_TRANSLATION_DEFECT 1 ENCEPHALOPATHY_ASSOCIATED_WITH_MULTIPLE_OXIDATIVE_PHOSPHORYLATION_COMPLEX_DEFICIENCIES_AND_A_MITOCHONDRIAL_TRANSLATION_DEFECT
LIMB-GIRDLE_MUSCULAR_DYSTROPHY_TYPE_2L 1 LIMB-GIRDLE_MUSCULAR_DYSTROPHY_TYPE_2L
HEMIMEGALENCEPHALY_PIK3CA 1 HEMIMEGALENCEPHALY_PIK3CA
NANCE-HORAN_SYNDROME 1 NANCE-HORAN_SYNDROME
MICROPHTHALMIA_WITH_LINEAR_SKIN_LESIONS 1 MICROPHTHALMIA_WITH_LINEAR_SKIN_LESIONS
Hypogonadotropic_hypogonadism_2_with_or_without_anosmia 1 Hypogonadotropic_hypogonadism_2_with_or_without_anosmia
CONGENITAL_DISORDER_OF_DEGLYCOSYLATION 1 CONGENITAL_DISORDER_OF_DEGLYCOSYLATION
LATHOSTEROLOSIS 1 LATHOSTEROLOSIS
DEAFNESS_AUTOSOMAL_DOMINANT_TYPE_13 1 DEAFNESS_AUTOSOMAL_DOMINANT_TYPE_13
DISTAL_ARTHROGRYPOSIS_TYPE_5D 1 DISTAL_ARTHROGRYPOSIS_TYPE_5D
CILIARY_DYSKINESIA,_PRIMARY,_23 1 CILIARY_DYSKINESIA,_PRIMARY,_23
MINICORE_MYOPATHY_WITH_EXTERNAL_OPHTHALMOPLEGIA 1 MINICORE_MYOPATHY_WITH_EXTERNAL_OPHTHALMOPLEGIA
NONSYNDROMIC_DEAFNESS_DFNB48 1 NONSYNDROMIC_DEAFNESS_DFNB48
FGF10-related_lacrimo-auriculo-dento-digital_(LADD)_syndrome 1 FGF10-related_lacrimo-auriculo-dento-digital_(LADD)_syndrome
MALIGNANT_MIGRATING_PARTIAL_SEIZURES_OF_INFANCY 1 MALIGNANT_MIGRATING_PARTIAL_SEIZURES_OF_INFANCY
MULTIPLE_EPIPHYSEAL_DYSPLASIA_TYPE_5 1 MULTIPLE_EPIPHYSEAL_DYSPLASIA_TYPE_5
INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROMIC_X-LINKED_LUBS_TYPE 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROMIC_X-LINKED_LUBS_TYPE
SEVERE_INTELLECTUAL_DISABILITY,_EPILEPSY,_AND_CATARACTS 1 SEVERE_INTELLECTUAL_DISABILITY,_EPILEPSY,_AND_CATARACTS
MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_(CONGENITAL_WITH_BRAIN_AND_EYE_ANOMALIES),_TYPE_A,_14 1 MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_(CONGENITAL_WITH_BRAIN_AND_EYE_ANOMALIES),_TYPE_A,_14
MITOCHONDRIAL_COMPLEX_III_DEFICIENCY,_NUCLEAR_TYPE_6 1 MITOCHONDRIAL_COMPLEX_III_DEFICIENCY,_NUCLEAR_TYPE_6
COLE-CARPENTER_SYNDROME 1 COLE-CARPENTER_SYNDROME
CRANIOMETAPHYSEAL_DYSPLASIA_JACKSON_TYPE 1 CRANIOMETAPHYSEAL_DYSPLASIA_JACKSON_TYPE
PEROXISOME_BIOGENESIS_DISORDER_COMPLEMENTATION_GROUP_4 1 PEROXISOME_BIOGENESIS_DISORDER_COMPLEMENTATION_GROUP_4
LIMB-GIRDLE_MUSCULAR_DYSTROPHY_TYPE_2H 1 LIMB-GIRDLE_MUSCULAR_DYSTROPHY_TYPE_2H
INFANTILE_CEREBELLAR-RETINAL_DEGENERATION 1 INFANTILE_CEREBELLAR-RETINAL_DEGENERATION
INTESTINAL_ATRESIA,_MULTIPLE 1 INTESTINAL_ATRESIA,_MULTIPLE
PHOSPHOGLYCERATE_KINASE_1_DEFICIENCY 1 PHOSPHOGLYCERATE_KINASE_1_DEFICIENCY
AMELOGENESIS_IMPERFECTA_AND_GINGIVAL_FIBROMATOSIS_SYNDROME 1 AMELOGENESIS_IMPERFECTA_AND_GINGIVAL_FIBROMATOSIS_SYNDROME
AMINOACYLASE-1_DEFICIENCY 1 AMINOACYLASE-1_DEFICIENCY
PROP1-RELATED_COMBINED_PITUITARY_HORMONE_DEFICIENCY 1 PROP1-RELATED_COMBINED_PITUITARY_HORMONE_DEFICIENCY
MITOCHONDRIAL_TRANSLATION_DEFECT_ASSOCIATED_WITH_HYPERTROPHIC_CARDIOMYOPATHY,_LACTIC_ACIDOSIS,_AND_ENCEPHALOPATHY 1 MITOCHONDRIAL_TRANSLATION_DEFECT_ASSOCIATED_WITH_HYPERTROPHIC_CARDIOMYOPATHY,_LACTIC_ACIDOSIS,_AND_ENCEPHALOPATHY
AUTISM/ID 1 AUTISM/ID
LUJAN-FRYNS_SYNDROME 1 LUJAN-FRYNS_SYNDROME
INTERSTITIAL_LUNG_DISEASE,_NEPHROTIC_SYNDROME,_AND_EPIDERMOLYSIS_BULLOSA,_CONGENITAL 1 INTERSTITIAL_LUNG_DISEASE,_NEPHROTIC_SYNDROME,_AND_EPIDERMOLYSIS_BULLOSA,_CONGENITAL
DPAGT1-CDG 1 DPAGT1-CDG
SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_SHORT_LIMB-HAND_TYPE 1 SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_SHORT_LIMB-HAND_TYPE
MICROVILLUS_INCLUSION_DISEASE 1 MICROVILLUS_INCLUSION_DISEASE
MCT8_(SLC16A2)-SPECIFIC_THYROID_HORMONE_CELL_TRANSPORTER_DEFICIENCY 1 MCT8_(SLC16A2)-SPECIFIC_THYROID_HORMONE_CELL_TRANSPORTER_DEFICIENCY
MESOAXIAL_SYNOSTOTIC_SYNDACTYLY_WITH_PHALANGEAL_REDUCTION,_MALIK-PERCIN_TYPE 1 MESOAXIAL_SYNOSTOTIC_SYNDACTYLY_WITH_PHALANGEAL_REDUCTION,_MALIK-PERCIN_TYPE
D-BIFUNCTIONAL_PROTEIN_DEFICIENCY 1 D-BIFUNCTIONAL_PROTEIN_DEFICIENCY
PRIMARY_CILIARY_DYSKINESIA-22 1 PRIMARY_CILIARY_DYSKINESIA-22
KCNH5-related_epilepsy_and_epileptic_encephalopathy 1 KCNH5-related_epilepsy_and_epileptic_encephalopathy
BAINBRIDGE-ROPERS_SYNDROME 1 BAINBRIDGE-ROPERS_SYNDROME
MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_LIMB-GIRDLE_TYPE_C7 1 MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_LIMB-GIRDLE_TYPE_C7
DEAFNESS_AUTOSOMAL_RECESSIVE_TYPE_53 1 DEAFNESS_AUTOSOMAL_RECESSIVE_TYPE_53
SEVERE_AUTOSOMAL_DOMINANT_NOCTURNAL_FRONTAL_LOBE_EPILEPSY 1 SEVERE_AUTOSOMAL_DOMINANT_NOCTURNAL_FRONTAL_LOBE_EPILEPSY
ANEMIA,_SIDEROBLASTIC,_WITH_ATAXIA 1 ANEMIA,_SIDEROBLASTIC,_WITH_ATAXIA
JANSEN_METAPHYSEAL_CHONDRODYSPLASIA 1 JANSEN_METAPHYSEAL_CHONDRODYSPLASIA
CEREBRORETINAL_MICROANGIOPATHY_WITH_CALCIFICATIONS_AND_CYSTS 1 CEREBRORETINAL_MICROANGIOPATHY_WITH_CALCIFICATIONS_AND_CYSTS
LONG_QT_SYNDROME-5 1 LONG_QT_SYNDROME-5
GDF3_multiple_malformations 1 GDF3_multiple_malformations
CONGENITAL_SHORT_BOWEL_SYNDROME 1 CONGENITAL_SHORT_BOWEL_SYNDROME
TYROSINEMIA_TYPE_1 1 TYROSINEMIA_TYPE_1
JOUBERT_SYNDROME_TYPE_5 1 JOUBERT_SYNDROME_TYPE_5
CORNELIA_DE_LANGE_SYNDROME_TYPE_2 1 CORNELIA_DE_LANGE_SYNDROME_TYPE_2
CENPJ-related_developmental_disorder 1 CENPJ-related_developmental_disorder
DEAFNESS_X-LINKED_TYPE_1 1 DEAFNESS_X-LINKED_TYPE_1
EHLERS-DANLOS_SYNDROME_MUSCULOCONTRACTURAL_TYPE 1 EHLERS-DANLOS_SYNDROME_MUSCULOCONTRACTURAL_TYPE
CATARACT,_CONGENITAL_NUCLEAR,_AUTOSOMAL_RECESSIVE_2 1 CATARACT,_CONGENITAL_NUCLEAR,_AUTOSOMAL_RECESSIVE_2
BRACHYDACTYLY,_TYPE_A1 1 BRACHYDACTYLY,_TYPE_A1
HOLOPROSENCEPHALY_11 1 HOLOPROSENCEPHALY_11
ACHONDROPLASIA 1 ACHONDROPLASIA
CACNA1C-related_Timothy_syndrome 1 CACNA1C-related_Timothy_syndrome
ACHONDROGENESIS_TYPE_1A 1 ACHONDROGENESIS_TYPE_1A
BRACHYDACTYLY-SYNDACTYLY_SYNDROME 1 BRACHYDACTYLY-SYNDACTYLY_SYNDROME
MUCOPOLYSACCHARIDOSIS_TYPE_2 1 MUCOPOLYSACCHARIDOSIS_TYPE_2
LEGIUS_SYNDROME 1 LEGIUS_SYNDROME
GRACILE_SYNDROME 1 GRACILE_SYNDROME
LEBER_CONGENITAL_AMAUROSIS_4 1 LEBER_CONGENITAL_AMAUROSIS_4
BOERJESON-FORSSMAN-LEHMANN_SYNDROME 1 BOERJESON-FORSSMAN-LEHMANN_SYNDROME
NESCAV_SYNDROME 1 NESCAV_SYNDROME
RAINE_SYNDROME 1 RAINE_SYNDROME
GRM6-related_congenital_stationary_night_blindness 1 GRM6-related_congenital_stationary_night_blindness
AUTOSOMAL-DOMINANT_HYPOTRICHOSIS_SIMPLEX 1 AUTOSOMAL-DOMINANT_HYPOTRICHOSIS_SIMPLEX
NOONAN_SYNDROME_5 1 NOONAN_SYNDROME_5
NEUROPATHY,_HEREDITARY_SENSORY,_TYPE_IIC 1 NEUROPATHY,_HEREDITARY_SENSORY,_TYPE_IIC
INSULIN-LIKE_GROWTH_FACTOR_I,_RESISTANCE_TO,_biallelic 1 INSULIN-LIKE_GROWTH_FACTOR_I,_RESISTANCE_TO,_biallelic
CATARACTS,_GROWTH_HORMONE_DEFICIENCY,_SENSORY_NEUROPATHY,_SENSORINEURAL_HEARING_LOSS,_AND_SKELETAL_DYSPLASIA 1 CATARACTS,_GROWTH_HORMONE_DEFICIENCY,_SENSORY_NEUROPATHY,_SENSORINEURAL_HEARING_LOSS,_AND_SKELETAL_DYSPLASIA
RETINITIS_PIGMENTOSA_28 1 RETINITIS_PIGMENTOSA_28
OPITZ_G/BBB_SYNDROME,_X-LINKED 1 OPITZ_G/BBB_SYNDROME,_X-LINKED
RESPIRATORY_CHAIN_DISORDER 1 RESPIRATORY_CHAIN_DISORDER
PITT_HOPKINS_2 1 PITT_HOPKINS_2
NEPHROTIC_SYNDROME,_TYPE_3 1 NEPHROTIC_SYNDROME,_TYPE_3
CEREBELLAR_ATAXIA_INTELLECTUAL_DEVELOPMENTAL_DISORDER_AND_DYSEQUILIBRIUM_SYNDROME_TYPE_1 1 CEREBELLAR_ATAXIA_INTELLECTUAL_DEVELOPMENTAL_DISORDER_AND_DYSEQUILIBRIUM_SYNDROME_TYPE_1
INTELLECTUAL_DEVELOPMENTAL_DISORDER-STEREOTYPIC_MOVEMENTS-EPILEPSY_AND/OR_CEREBRAL_MALFORMATIONS 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER-STEREOTYPIC_MOVEMENTS-EPILEPSY_AND/OR_CEREBRAL_MALFORMATIONS
INTELLECTUAL_DEVELOPMENTAL_DISORDER-ANTERIOR_MAXILLARY_PROTRUSION-STRABISMUS 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER-ANTERIOR_MAXILLARY_PROTRUSION-STRABISMUS
ENLARGED_PARIETAL_FORAMINA/CRANIUM_BIFIDUM 1 ENLARGED_PARIETAL_FORAMINA/CRANIUM_BIFIDUM
NOT_IN_OMIM 1 NOT_IN_OMIM
NLGN4X-related_autism_and_intellectual_disability 1 NLGN4X-related_autism_and_intellectual_disability
PYRIDOXINE-DEPENDENT_EPILEPSY 1 PYRIDOXINE-DEPENDENT_EPILEPSY
HYPOMYELINATION_WITH_ATROPHY_OF_THE_BASAL_GANGLIA_AND_CEREBELLUM 1 HYPOMYELINATION_WITH_ATROPHY_OF_THE_BASAL_GANGLIA_AND_CEREBELLUM
RETICULAR_DYSGENESIS 1 RETICULAR_DYSGENESIS
BILE_ACID_SYNTHESIS_DEFECT,_CONGENITAL,_1 1 BILE_ACID_SYNTHESIS_DEFECT,_CONGENITAL,_1
NEUROPATHY,_CONGENITAL_HYPOMYELINATING,_1 1 NEUROPATHY,_CONGENITAL_HYPOMYELINATING,_1
MICROPHTHALMIA,_ISOLATED,_WITH_CATARACT_2 1 MICROPHTHALMIA,_ISOLATED,_WITH_CATARACT_2
JOUBERT_SYNDROME_9 1 JOUBERT_SYNDROME_9
ASPHYXIATING_THORACIC_DYSTROPHY_5 1 ASPHYXIATING_THORACIC_DYSTROPHY_5
CENTRAL_HYPOTHYROIDISM_AND_TESTICULAR_ENLARGEMENT 1 CENTRAL_HYPOTHYROIDISM_AND_TESTICULAR_ENLARGEMENT
BONE_MARROW_FAILURE_SYNDROME_2 1 BONE_MARROW_FAILURE_SYNDROME_2
MOSAIC_VARIEGATED_ANEUPLOIDY_SYNDROME_2 1 MOSAIC_VARIEGATED_ANEUPLOIDY_SYNDROME_2
AUTISM_SPECTRUM_DISORDERS 1 AUTISM_SPECTRUM_DISORDERS
HYPERTELORISM,_SEVERE,_WITH_MIDFACE_PROMINENCE,_MYOPIA,_INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AND_BONE_FRAGILITY 1 HYPERTELORISM,_SEVERE,_WITH_MIDFACE_PROMINENCE,_MYOPIA,_INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AND_BONE_FRAGILITY
ACROCALLOSAL_SYNDROME 1 ACROCALLOSAL_SYNDROME
METHYLMALONIC_ACIDURIA_AND_HOMOCYSTINURIA_TYPE_CBLF 1 METHYLMALONIC_ACIDURIA_AND_HOMOCYSTINURIA_TYPE_CBLF
DANON_DISEASE 1 DANON_DISEASE
CEREBRAL_PALSY_SPASTIC_QUADRIPLEGIC_TYPE_1 1 CEREBRAL_PALSY_SPASTIC_QUADRIPLEGIC_TYPE_1
HNF4A-RELATED_MATURITY-ONSET_DIABETES_OF_THE_YOUNG_TYPE_1 1 HNF4A-RELATED_MATURITY-ONSET_DIABETES_OF_THE_YOUNG_TYPE_1
MICROSPHEROPHAKIA 1 MICROSPHEROPHAKIA
EPILEPTIC_ENCEPHALOPATHY_LENNOX-GASTAUT_TYPE 1 EPILEPTIC_ENCEPHALOPATHY_LENNOX-GASTAUT_TYPE
MULTIPLE_EPIPHYSEAL_DYSPLASIA_TYPE_4 1 MULTIPLE_EPIPHYSEAL_DYSPLASIA_TYPE_4
MICROPHTHALMIA_SYNDROMIC_TYPE_5 1 MICROPHTHALMIA_SYNDROMIC_TYPE_5
MITOCHONDRIAL_RESPIRATORY_CHAIN_COMPLEX_III_DEFICIENCY,_UQCRQ_RELATED 1 MITOCHONDRIAL_RESPIRATORY_CHAIN_COMPLEX_III_DEFICIENCY,_UQCRQ_RELATED
INTELLECTUAL_DEVELOPMENTAL_DISORDER,_FRA12A_TYPE 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER,_FRA12A_TYPE
MITOCHONDRIAL_COMPLEX_II_DEFICIENCY 1 MITOCHONDRIAL_COMPLEX_II_DEFICIENCY
ATP8B1-RELATED_INTRAHEPATIC_CHOLESTASIS 1 ATP8B1-RELATED_INTRAHEPATIC_CHOLESTASIS
THYROID_HORMONE_METABOLISM,_ABNORMAL 1 THYROID_HORMONE_METABOLISM,_ABNORMAL
FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_0 1 FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_0
CONGENITAL_VARIANT_OF_RETT_SYNDROME 1 CONGENITAL_VARIANT_OF_RETT_SYNDROME
SETLEIS_SYNDROME 1 SETLEIS_SYNDROME
INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AUTOSOMAL_DOMINANT,_28 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AUTOSOMAL_DOMINANT,_28
CHROMOSOME_XQ28_DUPLICATION_SYNDROME 1 CHROMOSOME_XQ28_DUPLICATION_SYNDROME
RPGRIP1-related_retinal_dystrophy 1 RPGRIP1-related_retinal_dystrophy
AGENESIS_OF_THE_CORPUS_CALLOSUM_WITH_INTELLECTUAL_DEVELOPMENTAL_DISORDER-OCULAR_COLOBOMA-MICROGNATHIA 1 AGENESIS_OF_THE_CORPUS_CALLOSUM_WITH_INTELLECTUAL_DEVELOPMENTAL_DISORDER-OCULAR_COLOBOMA-MICROGNATHIA
GTP_CYCLOHYDROLASE_1_DEFICIENCY 1 GTP_CYCLOHYDROLASE_1_DEFICIENCY
SPONDYLOMETAPHYSEAL_DYSPLASIA,_KOZLOWSKI_TYPE 1 SPONDYLOMETAPHYSEAL_DYSPLASIA,_KOZLOWSKI_TYPE
FIBROSIS_OF_EXTRAOCULAR_MUSCLES,_CONGENITAL,_5 1 FIBROSIS_OF_EXTRAOCULAR_MUSCLES,_CONGENITAL,_5
TEMPLE_BARRAISTER_SYNDROME 1 TEMPLE_BARRAISTER_SYNDROME
ALBRIGHT_HEREDITARY_OSTEODYSTROPHY 1 ALBRIGHT_HEREDITARY_OSTEODYSTROPHY
AICARDI-GOUTIERES_SYNDROME_7 1 AICARDI-GOUTIERES_SYNDROME_7
NOCTURNAL_FRONTAL_LOBE_EPILEPSY_TYPE_1 1 NOCTURNAL_FRONTAL_LOBE_EPILEPSY_TYPE_1
EPILEPTIC_ENCEPHALOPATHY_EARLY_INFANTILE_TYPE_9 1 EPILEPTIC_ENCEPHALOPATHY_EARLY_INFANTILE_TYPE_9
SMALL_PATELLA_SYNDROME 1 SMALL_PATELLA_SYNDROME
CRANIOSYNOSTOSIS,_TYPE_2 1 CRANIOSYNOSTOSIS,_TYPE_2
BARDET-BIEDL_SYNDROME_TYPE_13 1 BARDET-BIEDL_SYNDROME_TYPE_13
SPASTIC_PARAPLEGIA_X-LINKED_TYPE_2 1 SPASTIC_PARAPLEGIA_X-LINKED_TYPE_2
GM2-GANGLIOSIDOSIS_TYPE_1 1 GM2-GANGLIOSIDOSIS_TYPE_1
DISTAL_RENAL_TUBULAR_ACIDOSIS_WITH_DEAFNESS 1 DISTAL_RENAL_TUBULAR_ACIDOSIS_WITH_DEAFNESS
PRIMARY_CILIARY_DYSKINESIA_WITH_CENTRAL-COMPLEX_AND_RADIAL-SPOKE_DEFECTS 1 PRIMARY_CILIARY_DYSKINESIA_WITH_CENTRAL-COMPLEX_AND_RADIAL-SPOKE_DEFECTS
MYHRE_SYNDROME 1 MYHRE_SYNDROME
CPLANE1-related_Joubert_syndrome 1 CPLANE1-related_Joubert_syndrome
FRONTONASAL_DYSPLASIA_2 1 FRONTONASAL_DYSPLASIA_2
FATAL_INFANTILE_CARDIOENCEPHALOMYOPATHY_DUE_TO_CYTOCHROME_C_OXIDASE_DEFICIENCY 1 FATAL_INFANTILE_CARDIOENCEPHALOMYOPATHY_DUE_TO_CYTOCHROME_C_OXIDASE_DEFICIENCY
MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_CONGENITAL_WITH_INTELLECTUAL_DEVELOPMENTAL_DISORDER_TYPE_B6 1 MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_CONGENITAL_WITH_INTELLECTUAL_DEVELOPMENTAL_DISORDER_TYPE_B6
CILIARY_DYSKINESIA,_PRIMARY,_29 1 CILIARY_DYSKINESIA,_PRIMARY,_29
FETAL_AKINESIA_DEFORMATION_SEQUENCE 1 FETAL_AKINESIA_DEFORMATION_SEQUENCE
BARDET-BIEDL_SYNDROME_TYPE_15 1 BARDET-BIEDL_SYNDROME_TYPE_15
FRONTONASAL_DYSPLASIA_TYPE_1 1 FRONTONASAL_DYSPLASIA_TYPE_1
MANITOBA_OCULOTRICHOANAL_SYNDROME 1 MANITOBA_OCULOTRICHOANAL_SYNDROME
FILIPPI_SYNDROME._SYNDACTYLY,_TYPE_I,_WITH_MICROCEPHALY_AND_INTELLECTUAL_DEVELOPMENTAL_DISORDER 1 FILIPPI_SYNDROME._SYNDACTYLY,_TYPE_I,_WITH_MICROCEPHALY_AND_INTELLECTUAL_DEVELOPMENTAL_DISORDER
ALTERNATING_HEMIPLEGIA_OF_CHILDHOOD 1 ALTERNATING_HEMIPLEGIA_OF_CHILDHOOD
PEROXISOME_BIOGENESIS_DISORDER_COMPLEMENTATION_GROUP_K 1 PEROXISOME_BIOGENESIS_DISORDER_COMPLEMENTATION_GROUP_K
LEUKODYSTROPHY,_HYPOMYELINATING,_8,_WITH_OR_WITHOUT_OLIGODONTIA_AND/OR_HYPOGONADOTROPIC_HYPOGONADISM 1 LEUKODYSTROPHY,_HYPOMYELINATING,_8,_WITH_OR_WITHOUT_OLIGODONTIA_AND/OR_HYPOGONADOTROPIC_HYPOGONADISM
CRANIOLENTICULOSUTURAL_DYSPLASIA 1 CRANIOLENTICULOSUTURAL_DYSPLASIA
WNT5A-RELATED_ROBINOW_SYNDROME,_AUTOSOMAL_DOMINANT 1 WNT5A-RELATED_ROBINOW_SYNDROME,_AUTOSOMAL_DOMINANT
X-LINKED_HYPOSPADIAS_TYPE_2 1 X-LINKED_HYPOSPADIAS_TYPE_2
MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_CONGENITAL_WITH_BRAIN_AND_EYE_ANOMALIES_TYPE_A2 1 MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_CONGENITAL_WITH_BRAIN_AND_EYE_ANOMALIES_TYPE_A2
CONGENITAL_DISORDER_OF_GLYCOSYLATION,_TYPE_IW 1 CONGENITAL_DISORDER_OF_GLYCOSYLATION,_TYPE_IW
BLEPHAROPHIMOSIS-INTELLECTUAL_DEVELOPMENTAL_DISORDER 1 BLEPHAROPHIMOSIS-INTELLECTUAL_DEVELOPMENTAL_DISORDER
SEVERE_COMBINED_IMMUNE_DEFICIENCY,_AUTOSOMAL_RECESSIVE,_T_CELL-NEGATIVE,_B_CELL_-POSITIVE,_NK_CELL-NEGATIVE,_JAK3-RELATED 1 SEVERE_COMBINED_IMMUNE_DEFICIENCY,_AUTOSOMAL_RECESSIVE,_T_CELL-NEGATIVE,_B_CELL_-POSITIVE,_NK_CELL-NEGATIVE,_JAK3-RELATED
CEREBRAL_PALSY_SPASTIC_QUADRIPLEGIC_TYPE_6 1 CEREBRAL_PALSY_SPASTIC_QUADRIPLEGIC_TYPE_6
ALG3-related_congenital_disorder_of_glycosylation 1 ALG3-related_congenital_disorder_of_glycosylation
MALFORMATIONS_OF_CORTICAL_DEVELOPMENT_AND_MICROCEPHALY. 1 MALFORMATIONS_OF_CORTICAL_DEVELOPMENT_AND_MICROCEPHALY.
LISSENCEPHALY_4 1 LISSENCEPHALY_4
CHROMOSOME_17Q21.31_MICRODELETION_SYNDROME 1 CHROMOSOME_17Q21.31_MICRODELETION_SYNDROME
STICKLER_SYNDROME_TYPE_3 1 STICKLER_SYNDROME_TYPE_3
ANOPHTHALMIA/MICROPHTHALMIA 1 ANOPHTHALMIA/MICROPHTHALMIA
DYSTONIA_6,_TORSION 1 DYSTONIA_6,_TORSION
NOONAN_SYNDROME_4 1 NOONAN_SYNDROME_4
NEUTROPENIA,_SEVERE_CONGENITAL_3,_AUTOSOMAL_RECESSIVE 1 NEUTROPENIA,_SEVERE_CONGENITAL_3,_AUTOSOMAL_RECESSIVE
INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_58 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_58
CASP2-related_developmental_disorder_with_lissencephaly 1 CASP2-related_developmental_disorder_with_lissencephaly
DYSTONIA_TYPE_5 1 DYSTONIA_TYPE_5
INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROMIC_X-LINKED_CABEZAS_TYPE 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROMIC_X-LINKED_CABEZAS_TYPE
CAPILLARY_MALFORMATION-ARTERIOVENOUS_MALFORMATION_1 1 CAPILLARY_MALFORMATION-ARTERIOVENOUS_MALFORMATION_1
CRANIOFACIAL_DYSMORPHISM,_SKELETAL_ANOMALIES,_AND_INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROME 1 CRANIOFACIAL_DYSMORPHISM,_SKELETAL_ANOMALIES,_AND_INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROME
ANTLEY-BIXLER_SYNDROME 1 ANTLEY-BIXLER_SYNDROME
NOG-related-symphalangism_spectrum_disorder_ 1 NOG-related-symphalangism_spectrum_disorder_
HEMIMEGALENCEPHALY_AKT3 1 HEMIMEGALENCEPHALY_AKT3
NEURODEGENERATION_DUE_TO_CEREBRAL_FOLATE_TRANSPORT_DEFICIENCY 1 NEURODEGENERATION_DUE_TO_CEREBRAL_FOLATE_TRANSPORT_DEFICIENCY
SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_PAKISTANI_TYPE 1 SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_PAKISTANI_TYPE
SPINAL_MUSCULAR_ATROPHY_ASSOCIATED_WITH_PROGRESSIVE_MYOCLONIC_EPILEPSY 1 SPINAL_MUSCULAR_ATROPHY_ASSOCIATED_WITH_PROGRESSIVE_MYOCLONIC_EPILEPSY
HYPOTHYROIDISM,_CONGENITAL,_NONGOITROUS,_1 1 HYPOTHYROIDISM,_CONGENITAL,_NONGOITROUS,_1
MULTIPLE_EPIPHYSEAL_DYSPLASIA_TYPE_3 1 MULTIPLE_EPIPHYSEAL_DYSPLASIA_TYPE_3
THANATOPHORIC_DYSPLASIA_TYPE_2 1 THANATOPHORIC_DYSPLASIA_TYPE_2
INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_94 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_94
Developmental_delay,_ID,_obesity_and_dysmorphic_features 1 Developmental_delay,_ID,_obesity_and_dysmorphic_features
INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROMIC_X-LINKED_TYPE_10 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROMIC_X-LINKED_TYPE_10
PRSS56-related_microphthalmia 1 PRSS56-related_microphthalmia
COMBINED_OXIDATIVE_PHOSPHORYLATION_DEFICIENCY_4 1 COMBINED_OXIDATIVE_PHOSPHORYLATION_DEFICIENCY_4
MULTIPLE_CONGENITAL_ANOMALIES-HYPOTONIA-SEIZURES_SYNDROME_3 1 MULTIPLE_CONGENITAL_ANOMALIES-HYPOTONIA-SEIZURES_SYNDROME_3
KERATOCONUS_WITH_CATARACT;_EDICT_SYNDROME 1 KERATOCONUS_WITH_CATARACT;_EDICT_SYNDROME
SPASTIC_PARAPLEGIA-11 1 SPASTIC_PARAPLEGIA-11
OCULOCUTANEOUS_ALBINISM_TYPE_3 1 OCULOCUTANEOUS_ALBINISM_TYPE_3
AGENESIS_OF_THE_CORPUS_CALLOSUM 1 AGENESIS_OF_THE_CORPUS_CALLOSUM
CSPP1-related_Joubert_syndrome_with_or_without_Jeune_asphyxiating_thoracic_dystrophy 1 CSPP1-related_Joubert_syndrome_with_or_without_Jeune_asphyxiating_thoracic_dystrophy
FAMILIAL_SCHIZENCEPHALY,_EMX2-RELATED 1 FAMILIAL_SCHIZENCEPHALY,_EMX2-RELATED
ALG2-CDG 1 ALG2-CDG
LEIGH_SYNDROME_DUE_TO_MITOCHONDRIAL_COMPLEX_IV_DEFICIENCY 1 LEIGH_SYNDROME_DUE_TO_MITOCHONDRIAL_COMPLEX_IV_DEFICIENCY
ATELOSTEOGENESIS_TYPE_1 1 ATELOSTEOGENESIS_TYPE_1
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS_SYNDROME 1 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS_SYNDROME
TRICHOHEPATOENTERIC_SYNDROME 1 TRICHOHEPATOENTERIC_SYNDROME
OSTEOGENESIS_IMPERFECTA,_TYPE_VIII 1 OSTEOGENESIS_IMPERFECTA,_TYPE_VIII
MICROPHTHALMIA_SYNDROMIC_TYPE_3 1 MICROPHTHALMIA_SYNDROMIC_TYPE_3
EPILEPTIC_ENCEPHALOPATHY_EARLY_INFANTILE_TYPE_4 1 EPILEPTIC_ENCEPHALOPATHY_EARLY_INFANTILE_TYPE_4
HYPERPROLINEMIA_TYPE_2 1 HYPERPROLINEMIA_TYPE_2
MICROPHTHALMIA_ISOLATED_WITH_CATARACT_TYPE_4 1 MICROPHTHALMIA_ISOLATED_WITH_CATARACT_TYPE_4
HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM_SYNDROME 1 HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM_SYNDROME
MYOTUBULAR_MYOPATHY,_X-LINKED 1 MYOTUBULAR_MYOPATHY,_X-LINKED
LETHAL_CONGENITAL_CONTRACTURE_SYNDROME_TYPE_2 1 LETHAL_CONGENITAL_CONTRACTURE_SYNDROME_TYPE_2
CTDP1-related_congenital_cataracts,_dysmorphism_and_neuropathy 1 CTDP1-related_congenital_cataracts,_dysmorphism_and_neuropathy
SPONDYLOCOSTAL_DYSOSTOSIS_TYPE_3 1 SPONDYLOCOSTAL_DYSOSTOSIS_TYPE_3
HYPERAMMONEMIA_DUE_TO_CARBONIC_ANHYDRASE_VA_DEFICIENCY 1 HYPERAMMONEMIA_DUE_TO_CARBONIC_ANHYDRASE_VA_DEFICIENCY
LONP1-related_Codas_syndrome 1 LONP1-related_Codas_syndrome
MEGALENCEPHALY-CAPILLARY_MALFORMATION-POLYMICROGYRIA_SYNDROME,_SOMATIC_3 1 MEGALENCEPHALY-CAPILLARY_MALFORMATION-POLYMICROGYRIA_SYNDROME,_SOMATIC_3
DISTINCT_DNA_BREAKAGE_SYNDROME 1 DISTINCT_DNA_BREAKAGE_SYNDROME
HEARING_LOSS 1 HEARING_LOSS
ACYL-COA_DEHYDROGENASE_FAMILY_MEMBER_TYPE_9_DEFICIENCY 1 ACYL-COA_DEHYDROGENASE_FAMILY_MEMBER_TYPE_9_DEFICIENCY
DOPA-RESPONSIVE_DYSTONIA_DUE_TO_SEPIAPTERIN_REDUCTASE_DEFICIENCY 1 DOPA-RESPONSIVE_DYSTONIA_DUE_TO_SEPIAPTERIN_REDUCTASE_DEFICIENCY
DENTIN_DYSPLASIA,_TYPE_I,_WITH_MICRODONTIA_AND_MISSHAPEN_TEETH 1 DENTIN_DYSPLASIA,_TYPE_I,_WITH_MICRODONTIA_AND_MISSHAPEN_TEETH
METHYLMALONYL-COA_EPIMERASE_DEFICIENCY 1 METHYLMALONYL-COA_EPIMERASE_DEFICIENCY
INTELLECTUAL_DISABILITY_WITH_EPILEPSY 1 INTELLECTUAL_DISABILITY_WITH_EPILEPSY
AICA-RIBOSURIA 1 AICA-RIBOSURIA
CEREBRAL_PALSY_SPASTIC_QUADRIPLEGIC_TYPE_4 1 CEREBRAL_PALSY_SPASTIC_QUADRIPLEGIC_TYPE_4
PERIVENTRICULAR_HETEROTOPIA 1 PERIVENTRICULAR_HETEROTOPIA
MACROCEPHALY,_NEURODEVELOPMENTAL_DELAY,_AND_SEIZURES 1 MACROCEPHALY,_NEURODEVELOPMENTAL_DELAY,_AND_SEIZURES
CARBAMOYL_PHOSPHATE_SYNTHETASE_1_DEFICIENCY 1 CARBAMOYL_PHOSPHATE_SYNTHETASE_1_DEFICIENCY
OPSISMODYSPLASIA 1 OPSISMODYSPLASIA
INTELLECTUAL_DEVELOPMENTAL_DISORDER_AUTOSOMAL_DOMINANT_TYPE_7 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER_AUTOSOMAL_DOMINANT_TYPE_7
NEMALINE_MYOPATHY_3 1 NEMALINE_MYOPATHY_3
HYPOTONIA-CYSTINURIA_SYNDROME 1 HYPOTONIA-CYSTINURIA_SYNDROME
SINGLETON-MERTEN_SYNDROME 1 SINGLETON-MERTEN_SYNDROME
WALKER_WARBERG_SYNDROME 1 WALKER_WARBERG_SYNDROME
SPECIFIC_LANGUAGE_IMPAIRMENT_5 1 SPECIFIC_LANGUAGE_IMPAIRMENT_5
HOMEOTIC_ARM-TO-LEG_TRANSFORMATION_ASSOCIATED_WITH_GENOMIC_REARRANGEMENTS_AT_THE_PITX1_LOCUS 1 HOMEOTIC_ARM-TO-LEG_TRANSFORMATION_ASSOCIATED_WITH_GENOMIC_REARRANGEMENTS_AT_THE_PITX1_LOCUS
PANCREATIC_AGENESIS 1 PANCREATIC_AGENESIS
BARTH_SYNDROME 1 BARTH_SYNDROME
PARIETAL_FORAMINA_2 1 PARIETAL_FORAMINA_2
METHYLCOBALAMIN_DEFICIENCY_TYPE_G 1 METHYLCOBALAMIN_DEFICIENCY_TYPE_G
FEINGOLD_SYNDROME_TYPE_1 1 FEINGOLD_SYNDROME_TYPE_1
SPONDYLOENCHONDRODYSPLASIA_WITH_IMMUNE_DYSREGULATION 1 SPONDYLOENCHONDRODYSPLASIA_WITH_IMMUNE_DYSREGULATION
INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_44 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_44
AUTOSOMAL-RECESSIVE_CEREBELLAR_ATAXIA_WITH_SPASTICITY. 1 AUTOSOMAL-RECESSIVE_CEREBELLAR_ATAXIA_WITH_SPASTICITY.
INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_21 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_21
AMISH_INFANTILE_EPILEPSY_SYNDROME 1 AMISH_INFANTILE_EPILEPSY_SYNDROME
THROMBOCYTOPENIA-ABSENT_RADIUS_SYNDROME 1 THROMBOCYTOPENIA-ABSENT_RADIUS_SYNDROME
SLIT-ROBO_RHO_GTPASE-ACTIVATING_PROTEIN_3 1 SLIT-ROBO_RHO_GTPASE-ACTIVATING_PROTEIN_3
SEIZURES-SENSORINEURAL_DEAFNESS-ATAXIA-INTELLECTUAL_DEVELOPMENTAL_DISORDER-ELECTROLYTE_IMBALANCE 1 SEIZURES-SENSORINEURAL_DEAFNESS-ATAXIA-INTELLECTUAL_DEVELOPMENTAL_DISORDER-ELECTROLYTE_IMBALANCE
MICROPHTHALMIA_ISOLATED_WITH_COLOBOMA_TYPE_5 1 MICROPHTHALMIA_ISOLATED_WITH_COLOBOMA_TYPE_5
BRUCK_SYNDROME_TYPE_2 1 BRUCK_SYNDROME_TYPE_2
KNOBLOCH_SYNDROME_TYPE_I 1 KNOBLOCH_SYNDROME_TYPE_I
COG4-CDG 1 COG4-CDG
CONGENITAL_HEART_DEFECTS,_MULTIPLE_TYPES,_6 1 CONGENITAL_HEART_DEFECTS,_MULTIPLE_TYPES,_6
SPINAL_MUSCULAR_ATROPHY_WITH_RESPIRATORY_DISTRESS_1 1 SPINAL_MUSCULAR_ATROPHY_WITH_RESPIRATORY_DISTRESS_1
TUBA1A-associated_tubulinopathy 1 TUBA1A-associated_tubulinopathy
ANEMIA,_DYSERYTHROPOIETIC_CONGENITAL,_TYPE_IV 1 ANEMIA,_DYSERYTHROPOIETIC_CONGENITAL,_TYPE_IV
LEUKOENCEPHALOPATHY_MEGALENCEPHALIC_WITH_SUBCORTICAL_CYSTS 1 LEUKOENCEPHALOPATHY_MEGALENCEPHALIC_WITH_SUBCORTICAL_CYSTS
CRB1-related_Leber_Congenital_Amaurosis_and_Retinitis_Pigmentosa 1 CRB1-related_Leber_Congenital_Amaurosis_and_Retinitis_Pigmentosa
LOEYS-DIETZ_SYNDROME,_TYPE_4 1 LOEYS-DIETZ_SYNDROME,_TYPE_4
CILIARY_DYSKINESIA,_PRIMARY,_18 1 CILIARY_DYSKINESIA,_PRIMARY,_18
INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_63 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_63
MUSCULAR_DYSTROPHY,_LIMB-GIRDLE,_TYPE_2S 1 MUSCULAR_DYSTROPHY,_LIMB-GIRDLE,_TYPE_2S
CAMPTODACTYLY_TALL_STATURE_AND_HEARING_LOSS_SYNDROME 1 CAMPTODACTYLY_TALL_STATURE_AND_HEARING_LOSS_SYNDROME
CENTRONUCLEAR_MYOPATHY_WITH_DILATED_CARDIOMYOPATHY 1 CENTRONUCLEAR_MYOPATHY_WITH_DILATED_CARDIOMYOPATHY
HIBCH_DEFICIENCY 1 HIBCH_DEFICIENCY
PITUITARY_HORMONE_DEFICIENCY_COMBINED_TYPE_3 1 PITUITARY_HORMONE_DEFICIENCY_COMBINED_TYPE_3
DYSKERATOSIS_CONGENITA,_AUTOSOMAL_RECESSIVE_2 1 DYSKERATOSIS_CONGENITA,_AUTOSOMAL_RECESSIVE_2
DYSSEGMENTAL_DYSPLASIA_SILVERMAN-HANDMAKER_TYPE 1 DYSSEGMENTAL_DYSPLASIA_SILVERMAN-HANDMAKER_TYPE
SUSCEPTIBILITY_TO_AUTISM_TYPE_17 1 SUSCEPTIBILITY_TO_AUTISM_TYPE_17
AUTOSOMAL_RECESSIVE_TYPICAL_NEMALINE_MYOPATHY 1 AUTOSOMAL_RECESSIVE_TYPICAL_NEMALINE_MYOPATHY
L-2-HYDROXYGLUTARIC_ACIDURIA 1 L-2-HYDROXYGLUTARIC_ACIDURIA
DEVELOPMENTAL_AND_EXPRESSIVE_LANGUAGE_DELAY 1 DEVELOPMENTAL_AND_EXPRESSIVE_LANGUAGE_DELAY
MULTIPLE_SYNOSTOSES_SYNDROME_TYPE_3 1 MULTIPLE_SYNOSTOSES_SYNDROME_TYPE_3
FANCM-RELATED_FANCONI_ANEMIA 1 FANCM-RELATED_FANCONI_ANEMIA
MARTSOLF_SYNDROME 1 MARTSOLF_SYNDROME
CATEL-MANZKE_SYNDROME 1 CATEL-MANZKE_SYNDROME
HYDROPS-ECTOPIC_CALCIFICATION-MOTH-EATEN_SKELETAL_DYSPLASIA 1 HYDROPS-ECTOPIC_CALCIFICATION-MOTH-EATEN_SKELETAL_DYSPLASIA
ANEMIA,_DYSERYTHROPOIETIC_CONGENITAL,_TYPE_II 1 ANEMIA,_DYSERYTHROPOIETIC_CONGENITAL,_TYPE_II
Smith-Kingsmore_syndrome 1 Smith-Kingsmore_syndrome
HAND-FOOT-GENITAL_SYNDROME 1 HAND-FOOT-GENITAL_SYNDROME
INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_WITH_ISOLATED_GROWTH_HORMONE_DEFICIENCY 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_WITH_ISOLATED_GROWTH_HORMONE_DEFICIENCY
ICHTHYOSIS_PREMATURITY_SYNDROME 1 ICHTHYOSIS_PREMATURITY_SYNDROME
sjogren-larsson_syndrome 1 sjogren-larsson_syndrome
CLEFT_PALATE,_X-LINKED 1 CLEFT_PALATE,_X-LINKED
GLYCEROL_KINASE_DEFICIENCY 1 GLYCEROL_KINASE_DEFICIENCY
POLYMICROGYRIA_ASYMMETRIC 1 POLYMICROGYRIA_ASYMMETRIC
MECKEL_SYNDROME_TYPE_5 1 MECKEL_SYNDROME_TYPE_5
CONGENITAL_DISORDER_OF_GLYCOSYLATION,_TYPE_IX 1 CONGENITAL_DISORDER_OF_GLYCOSYLATION,_TYPE_IX
3-METHYLGLUTACONIC_ACIDURIA,_TYPE_VII,_WITH_CATARACTS,_NEUROLOGIC_INVOLVEMENT_AND_NEUTROPENIA 1 3-METHYLGLUTACONIC_ACIDURIA,_TYPE_VII,_WITH_CATARACTS,_NEUROLOGIC_INVOLVEMENT_AND_NEUTROPENIA
LRP5-related_exudative_vitreoretinopathy 1 LRP5-related_exudative_vitreoretinopathy
TARP_SYNDROME 1 TARP_SYNDROME
MANDIBULOFACIAL_DYSOSTOSIS_WITH_MICROCEPHALY 1 MANDIBULOFACIAL_DYSOSTOSIS_WITH_MICROCEPHALY
METAPHYSEAL_ANADYSPLASIA_TYPE_1 1 METAPHYSEAL_ANADYSPLASIA_TYPE_1
ATAXIA_WITH_OCULOMOTOR_APRAXIA_1 1 ATAXIA_WITH_OCULOMOTOR_APRAXIA_1
3-METHYLCROTONYL-COA_CARBOXYLASE_DEFICIENCY 1 3-METHYLCROTONYL-COA_CARBOXYLASE_DEFICIENCY
SCHNECKENBECKEN_DYSPLASIA 1 SCHNECKENBECKEN_DYSPLASIA
NEPHRONOPHTHISIS_TYPE_1 1 NEPHRONOPHTHISIS_TYPE_1
CONGENITAL_HEART_DISEASE,_NONSYNDROMIC,_2 1 CONGENITAL_HEART_DISEASE,_NONSYNDROMIC,_2
PLATYSPONDYLY_WITH_AMELOGENESIS_IMPERFECTA 1 PLATYSPONDYLY_WITH_AMELOGENESIS_IMPERFECTA
PHOSPHOGLYCERATE_DEHYDROGENASE_DEFICIENCY 1 PHOSPHOGLYCERATE_DEHYDROGENASE_DEFICIENCY
CATARACT-MICROCORNEA_SYNDROME 1 CATARACT-MICROCORNEA_SYNDROME
ASPHYXIATING_THORACIC_DYSTROPHY_2 1 ASPHYXIATING_THORACIC_DYSTROPHY_2
EHLERS-DANLOS_SYNDROME_WITH_PROGRESSIVE_KYPHOSCOLIOSIS,_MYOPATHY,_AND_HEARING_LOSS 1 EHLERS-DANLOS_SYNDROME_WITH_PROGRESSIVE_KYPHOSCOLIOSIS,_MYOPATHY,_AND_HEARING_LOSS
DIHYDROLIPOAMIDE_DEHYDROGENASE_(E3)_DEFICIENCY 1 DIHYDROLIPOAMIDE_DEHYDROGENASE_(E3)_DEFICIENCY
HYPOCHONDROPLASIA 1 HYPOCHONDROPLASIA
CONGENITAL_HYPOTHYROIDISM_NON-GOITROUS_TYPE_2 1 CONGENITAL_HYPOTHYROIDISM_NON-GOITROUS_TYPE_2
NEU-LAXOVA 1 NEU-LAXOVA
INTELLECTUAL_DEVELOPMENTAL_DISORDER_AUTOSOMAL_RECESSIVE_TYPE_13 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER_AUTOSOMAL_RECESSIVE_TYPE_13
INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AUTOSOMAL_DOMINANT_19 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AUTOSOMAL_DOMINANT_19
INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROMIC_X-LINKED_JARID1C-RELATED 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROMIC_X-LINKED_JARID1C-RELATED
MITOCHONDRIAL_DNA_DEPLETION_SYNDROME_6 1 MITOCHONDRIAL_DNA_DEPLETION_SYNDROME_6
CONGENITAL_DISORDER_OF_GLYCOSYLATION,_TYPE_IS 1 CONGENITAL_DISORDER_OF_GLYCOSYLATION,_TYPE_IS
SYNDROMIC_OSTEOGENESIS_IMPERFECTA 1 SYNDROMIC_OSTEOGENESIS_IMPERFECTA
EPILEPSY,_X-LINKED,_WITH_VARIABLE_LEARNING_DISABILITIES_AND_BEHAVIOR_DISORDERS 1 EPILEPSY,_X-LINKED,_WITH_VARIABLE_LEARNING_DISABILITIES_AND_BEHAVIOR_DISORDERS
SYNDROMIC_X-LINKED_INTELLECTUAL_DISABILITY 1 SYNDROMIC_X-LINKED_INTELLECTUAL_DISABILITY
SHPRINTZEN-GOLDBERG_CRANIOSYNOSTOSIS_SYNDROME 1 SHPRINTZEN-GOLDBERG_CRANIOSYNOSTOSIS_SYNDROME
CONGENITAL_DIARRHEAL_DISORDERS 1 CONGENITAL_DIARRHEAL_DISORDERS
LERI-WEILL_DYSCHONDROSTEOSIS 1 LERI-WEILL_DYSCHONDROSTEOSIS
USHER_SYNDROME_TYPE_1D 1 USHER_SYNDROME_TYPE_1D
PERIVENTRICULAR_NEURONAL_HETEROTOPIA 1 PERIVENTRICULAR_NEURONAL_HETEROTOPIA
TREACHER_COLLINS_SYNDROME_TYPE_2 1 TREACHER_COLLINS_SYNDROME_TYPE_2
FAMILIAL_COLD_AUTOINFLAMMATORY_SYNDROME_3 1 FAMILIAL_COLD_AUTOINFLAMMATORY_SYNDROME_3
CENTRAL_HYPOVENTILATION_SYNDROME,_CONGENITAL,_WITH_OR_WITHOUT_HIRSCHSPRUNG_DISEASE 1 CENTRAL_HYPOVENTILATION_SYNDROME,_CONGENITAL,_WITH_OR_WITHOUT_HIRSCHSPRUNG_DISEASE
ICHTHYOSIS_AUTOSOMAL_RECESSIVE_WITH_HYPOTRICHOSIS 1 ICHTHYOSIS_AUTOSOMAL_RECESSIVE_WITH_HYPOTRICHOSIS
INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_93 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_93
MICROCEPHALY_CORTICAL_MALFORMATIONS_AND_INTELLECTUAL_DEVELOPMENTAL_DISORDER 1 MICROCEPHALY_CORTICAL_MALFORMATIONS_AND_INTELLECTUAL_DEVELOPMENTAL_DISORDER
PEROXISOME_BIOGENESIS_DISORDER_COMPLEMENTATION_GROUP_7 1 PEROXISOME_BIOGENESIS_DISORDER_COMPLEMENTATION_GROUP_7
MECKEL_SYNDROME_9 1 MECKEL_SYNDROME_9
PORENCEPHALY_2 1 PORENCEPHALY_2
NIEMANN-PICK_DISEASE,_TYPE_C1 1 NIEMANN-PICK_DISEASE,_TYPE_C1
CATARACT_ZONULAR_PULVERULENT_CATARACT_TYPE_3 1 CATARACT_ZONULAR_PULVERULENT_CATARACT_TYPE_3
INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_90 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_90
CHOLESTEROL_DESMOLASE-DEFICIENT_CONGENITAL_ADRENAL_HYPERPLASIA 1 CHOLESTEROL_DESMOLASE-DEFICIENT_CONGENITAL_ADRENAL_HYPERPLASIA
EPIMERASE-DEFICIENCY_GALACTOSEMIA 1 EPIMERASE-DEFICIENCY_GALACTOSEMIA
PALLISTER-HALL_SYNDROME 1 PALLISTER-HALL_SYNDROME
METHYLMALONIC_ACIDURIA_AND_HOMOCYSTINURIA,_CBLC_TYPE 1 METHYLMALONIC_ACIDURIA_AND_HOMOCYSTINURIA,_CBLC_TYPE
FYCO1-related_congenital_cataract 1 FYCO1-related_congenital_cataract
BARDET-BIEDL_SYNDROME_TYPE_2 1 BARDET-BIEDL_SYNDROME_TYPE_2
FATAL_ENCEPHALOPATHY,_LACTIC_ACIDOSIS,_AND_SEVERE_MTDNA_DEPLETION_IN_MUSCLE 1 FATAL_ENCEPHALOPATHY,_LACTIC_ACIDOSIS,_AND_SEVERE_MTDNA_DEPLETION_IN_MUSCLE
FRUCTOSE_1,6_BISPHOSPHATASE_DEFICIENCY 1 FRUCTOSE_1,6_BISPHOSPHATASE_DEFICIENCY
INTELLECTUAL_DEVELOPMENTAL_DISORDER_AUTOSOMAL_RECESSIVE_TYPE_7 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER_AUTOSOMAL_RECESSIVE_TYPE_7
SYMPTOMATIC_EPILEPSY_AND_SKULL_DYSPLASIA 1 SYMPTOMATIC_EPILEPSY_AND_SKULL_DYSPLASIA
SPONDYLOMETAPHYSEAL_DYSPLASIA_WITH_CONE-ROD_DYSTROPHY 1 SPONDYLOMETAPHYSEAL_DYSPLASIA_WITH_CONE-ROD_DYSTROPHY
ACROMELIC_FRONTONASAL_DYSOSTOSIS 1 ACROMELIC_FRONTONASAL_DYSOSTOSIS
CAPRIN1-related_neurodevelopmental_disorder_ 1 CAPRIN1-related_neurodevelopmental_disorder_
PHOSPHORIBOSYLPYROPHOSPHATE_SYNTHETASE_SUPERACTIVITY 1 PHOSPHORIBOSYLPYROPHOSPHATE_SYNTHETASE_SUPERACTIVITY
GDF5-related_Symphalangism_Spectrum_Disorder 1 GDF5-related_Symphalangism_Spectrum_Disorder
THANATOPHORIC_DYSPLASIA_TYPE_1 1 THANATOPHORIC_DYSPLASIA_TYPE_1
ACROCEPHALOPOLYSYNDACTYLY_TYPE_2 1 ACROCEPHALOPOLYSYNDACTYLY_TYPE_2
IRON-REFRACTORY_IRON_DEFICIENCY_ANEMIA 1 IRON-REFRACTORY_IRON_DEFICIENCY_ANEMIA
ATRIAL_SEPTAL_DEFECT_9 1 ATRIAL_SEPTAL_DEFECT_9
3-HYDROXY-3-METHYLGLUTARYL-COA_SYNTHASE_2_DEFICIENCY 1 3-HYDROXY-3-METHYLGLUTARYL-COA_SYNTHASE_2_DEFICIENCY
CITRULLINEMIA_TYPE_I 1 CITRULLINEMIA_TYPE_I
MITOCHONDRIAL_DNA_DEPLETION_SYNDROME_4A 1 MITOCHONDRIAL_DNA_DEPLETION_SYNDROME_4A
ARTHROGRYPOSIS,_RENAL_DYSFUNCTION,_AND_CHOLESTASIS_1 1 ARTHROGRYPOSIS,_RENAL_DYSFUNCTION,_AND_CHOLESTASIS_1
RENAL-HEPATIC_CILIOPATHY 1 RENAL-HEPATIC_CILIOPATHY
LEUKOENCEPHALOPATHY,_CYSTIC,_WITHOUT_MEGALENCEPHALY 1 LEUKOENCEPHALOPATHY,_CYSTIC,_WITHOUT_MEGALENCEPHALY
KEUTEL_SYNDROME 1 KEUTEL_SYNDROME
CONGENITAL_CLUBFOOT 1 CONGENITAL_CLUBFOOT
INFANTILE_NEUROAXONAL_DYSTROPHY_1 1 INFANTILE_NEUROAXONAL_DYSTROPHY_1
TREACHER_COLLINS_SYNDROME_TYPE_1 1 TREACHER_COLLINS_SYNDROME_TYPE_1
EPILEPTIC_ENCEPHALOPATHY,_EARLY_INFANTILE,_23 1 EPILEPTIC_ENCEPHALOPATHY,_EARLY_INFANTILE,_23
LEUKODYSTROPHY,_HYPOMYELINATING,_3 1 LEUKODYSTROPHY,_HYPOMYELINATING,_3
BRACHYDACTYLY-INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROME 1 BRACHYDACTYLY-INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROME
INTELLECTUAL_DEVELOPMENTAL_DISORDER_AUTOSOMAL_RECESSIVE_TYPE_2A 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER_AUTOSOMAL_RECESSIVE_TYPE_2A
PREMATURE_OVARIAN_FAILURE_SYNDROME_TYPE_1 1 PREMATURE_OVARIAN_FAILURE_SYNDROME_TYPE_1
DISTAL_ARTHROGRYPOSIS_TYPE_2A 1 DISTAL_ARTHROGRYPOSIS_TYPE_2A
INTELLECTUAL_DEVELOPMENTAL_DISORDER_AUTOSOMAL_DOMINANT_TYPE_5 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER_AUTOSOMAL_DOMINANT_TYPE_5
KOHLSCHUTTER-TONZ_SYNDROME 1 KOHLSCHUTTER-TONZ_SYNDROME
NOONAN_SYNDROME_TYPE_6 1 NOONAN_SYNDROME_TYPE_6
NIJMEGEN_BREAKAGE_SYNDROME 1 NIJMEGEN_BREAKAGE_SYNDROME
SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_STRUDWICK_TYPE 1 SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_STRUDWICK_TYPE
ALPHA-METHYLACETOACETIC_ACIDURIA 1 ALPHA-METHYLACETOACETIC_ACIDURIA
HYPOTHRYOIDISM,_CONGENITAL,_NONGOITROUS_4 1 HYPOTHRYOIDISM,_CONGENITAL,_NONGOITROUS_4
COX15-related_Leigh_Syndrome 1 COX15-related_Leigh_Syndrome
PERLMAN_SYNDROME 1 PERLMAN_SYNDROME
MULTIPLE_EPIPHYSEAL_DYSPLASIA_TYPE_2 1 MULTIPLE_EPIPHYSEAL_DYSPLASIA_TYPE_2
MUCOPOLYSACCHARIDOSIS_TYPE_9 1 MUCOPOLYSACCHARIDOSIS_TYPE_9
INTELLECTUAL_DEVELOPMENTAL_DISORDER,_X-LINKED_3 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER,_X-LINKED_3
ACROCAPITOFEMORAL_DYSPLASIA 1 ACROCAPITOFEMORAL_DYSPLASIA
CONGENITAL_HYPOTHYROIDISM_NON-GOITROUS_TYPE_5 1 CONGENITAL_HYPOTHYROIDISM_NON-GOITROUS_TYPE_5
RIDDLE_SYNDROME 1 RIDDLE_SYNDROME
INFANTILE_NEPHRONOPHTHISIS_AND_INTELLECTUAL_DISABILITY 1 INFANTILE_NEPHRONOPHTHISIS_AND_INTELLECTUAL_DISABILITY
ACROFACIAL_DYSOSTOSIS_1,_NAGER_TYPE 1 ACROFACIAL_DYSOSTOSIS_1,_NAGER_TYPE
CEREBELLAR_ATAXIA,_INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AND_DYSEQUILIBRIUM_SYNDROME_4 1 CEREBELLAR_ATAXIA,_INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AND_DYSEQUILIBRIUM_SYNDROME_4
INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_SYP-RELATED 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_SYP-RELATED
UROCANASE_DEFICIENCY 1 UROCANASE_DEFICIENCY
RETINAL_ARTERIAL_MACROANEURYSM_WITH_SUPRAVALVULAR_PULMONIC_STENOSIS 1 RETINAL_ARTERIAL_MACROANEURYSM_WITH_SUPRAVALVULAR_PULMONIC_STENOSIS
ISOVALERIC_ACIDEMIA 1 ISOVALERIC_ACIDEMIA
AUTOSOMAL-RECESSIVE_COMPLETE_CONGENITAL_STATIONARY_NIGHT_BLINDNESS 1 AUTOSOMAL-RECESSIVE_COMPLETE_CONGENITAL_STATIONARY_NIGHT_BLINDNESS
MARINESCO-SJOEGREN_SYNDROME 1 MARINESCO-SJOEGREN_SYNDROME
DEAFNESS,_AUTOSOMAL_RECESSIVE_89 1 DEAFNESS,_AUTOSOMAL_RECESSIVE_89
12P12.5_INTRAGENIC_DELETIONS_ASSOCIATED_WITH_INTELLECTUAL_DISABILITY 1 12P12.5_INTRAGENIC_DELETIONS_ASSOCIATED_WITH_INTELLECTUAL_DISABILITY
GNATHODIAPHYSEAL_DYSPLASIA 1 GNATHODIAPHYSEAL_DYSPLASIA
FOCAL_DERMAL_HYPOPLASIA 1 FOCAL_DERMAL_HYPOPLASIA
Loeys-Dietz_syndrome_2 1 Loeys-Dietz_syndrome_2
MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_LIMB-GIRDLE_TYPE_C4 1 MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_LIMB-GIRDLE_TYPE_C4
CONGENITAL_HEART_DISEASE_and_NEURODEVELOPMENTAL_DISORDER 1 CONGENITAL_HEART_DISEASE_and_NEURODEVELOPMENTAL_DISORDER
BARDET-BIEDL_SYNDROME_TYPE_7 1 BARDET-BIEDL_SYNDROME_TYPE_7
FAMILIAL_ISOLATED_HYPOPARATHYROIDISM 1 FAMILIAL_ISOLATED_HYPOPARATHYROIDISM
ETHYLMALONIC_ENCEPHALOPATHY 1 ETHYLMALONIC_ENCEPHALOPATHY
PYCNODYSOSTOSIS 1 PYCNODYSOSTOSIS
THREE_M_SYNDROME_3 1 THREE_M_SYNDROME_3
ICHTHYOSIS,_LAMELLAR,_4 1 ICHTHYOSIS,_LAMELLAR,_4
NIGHT_BLINDNESS,_CONGENITAL_STATIONARY,_TYPE_1D 1 NIGHT_BLINDNESS,_CONGENITAL_STATIONARY,_TYPE_1D
MITOCHONDRIAL_COMPLEX_V_(ATP_SYNTHASE)_DEFICIENCY,_NUCLEAR_TYPE_2 1 MITOCHONDRIAL_COMPLEX_V_(ATP_SYNTHASE)_DEFICIENCY,_NUCLEAR_TYPE_2
ENCEPHALOPATHY_NEONATAL_SEVERE_DUE_TO_MECP2_MUTATIONS 1 ENCEPHALOPATHY_NEONATAL_SEVERE_DUE_TO_MECP2_MUTATIONS
CONGENITAL_DISORDER_OF_GLYCOSYLATION,_TYPE_IT 1 CONGENITAL_DISORDER_OF_GLYCOSYLATION,_TYPE_IT
SHORT_RIB-POLYDACTYLY_SYNDROME,_TYPE_II 1 SHORT_RIB-POLYDACTYLY_SYNDROME,_TYPE_II
KCTD7-related_progressive_myoclonic_epilepsy 1 KCTD7-related_progressive_myoclonic_epilepsy
INTELLECTUAL_DEVELOPMENTAL_DISORDER_WITH_LANGUAGE_IMPAIRMENT_AND_AUTISTIC_FEATURES 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER_WITH_LANGUAGE_IMPAIRMENT_AND_AUTISTIC_FEATURES
CHARGE_SYNDROME 1 CHARGE_SYNDROME
FACIAL_CLEFTING,_OBLIQUE,_1 1 FACIAL_CLEFTING,_OBLIQUE,_1
ATAXIA-OCULOMOTOR_APRAXIA_4 1 ATAXIA-OCULOMOTOR_APRAXIA_4
PRIMARY_CILIARY_DYSKINESIA_WITH_CENTRAL-COMPLEX_DEFECTS 1 PRIMARY_CILIARY_DYSKINESIA_WITH_CENTRAL-COMPLEX_DEFECTS
SPINOCEREBELLAR_ATAXIA_29,_CONGENITAL_NONPROGRESSIVE 1 SPINOCEREBELLAR_ATAXIA_29,_CONGENITAL_NONPROGRESSIVE
ALAZAMI_SYNDROME 1 ALAZAMI_SYNDROME
WIEDEMANN-STEINER_SYNDROME 1 WIEDEMANN-STEINER_SYNDROME
METHEMOGLOBINEMIA_DUE_TO_DEFICIENCY_OF_METHEMOGLOBIN_REDUCTASE 1 METHEMOGLOBINEMIA_DUE_TO_DEFICIENCY_OF_METHEMOGLOBIN_REDUCTASE
DIABETES_MELLITUS,_KCNJ11-RELATED_TRANSIENT_NEONATAL 1 DIABETES_MELLITUS,_KCNJ11-RELATED_TRANSIENT_NEONATAL
INTELLECTUAL_DEVELOPMENTAL_DISORDER,_autosomal_recessive_34,_with_variant_lissencephaly 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER,_autosomal_recessive_34,_with_variant_lissencephaly
INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROMIC_X-LINKED_SIDERIUS_TYPE 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROMIC_X-LINKED_SIDERIUS_TYPE
CONGENITAL_CEREBELLAR_ATAXIA 1 CONGENITAL_CEREBELLAR_ATAXIA
MICROCEPHALY_PRIMARY_TYPE_7 1 MICROCEPHALY_PRIMARY_TYPE_7
MULTIPLE_CONGENITAL_ANOMALIES-HYPOTONIA-SEIZURES_SYNDROME 1 MULTIPLE_CONGENITAL_ANOMALIES-HYPOTONIA-SEIZURES_SYNDROME
CENTRONUCLEAR_MYOPATHY_2 1 CENTRONUCLEAR_MYOPATHY_2
HYPOMYELINATION_WITH_BRAIN_STEM_AND_SPINAL_CORD_INVOLVEMENT_AND_LEG_SPASTICITY. 1 HYPOMYELINATION_WITH_BRAIN_STEM_AND_SPINAL_CORD_INVOLVEMENT_AND_LEG_SPASTICITY.
BILATERAL_PERISYLVIAN_POLYMICROGYRIA 1 BILATERAL_PERISYLVIAN_POLYMICROGYRIA
CHOROIDEREMIA 1 CHOROIDEREMIA
HYPERTHYROIDISM,_FAMILIAL_GESTATIONAL 1 HYPERTHYROIDISM,_FAMILIAL_GESTATIONAL
HOLOPROSENCEPHALY-7 1 HOLOPROSENCEPHALY-7
BRACHYDACTYLY_TYPE_A2 1 BRACHYDACTYLY_TYPE_A2
CATARACT_21,_MULTIPLE_TYPES 1 CATARACT_21,_MULTIPLE_TYPES
METHYLMALONIC_ACIDURIA_TYPE_MUT 1 METHYLMALONIC_ACIDURIA_TYPE_MUT
RETINAL_CONE_DYSTROPHY_3_PDE6H 1 RETINAL_CONE_DYSTROPHY_3_PDE6H
NEPHRONOPHTHISIS_TYPE_11 1 NEPHRONOPHTHISIS_TYPE_11
AURAL_ATRESIA,_CONGENITAL 1 AURAL_ATRESIA,_CONGENITAL
HOLOPROSENCEPHALY_TYPE_3 1 HOLOPROSENCEPHALY_TYPE_3
XL_INTELLECTUAL_DISABILITY 1 XL_INTELLECTUAL_DISABILITY
DIABETES_MELLITUS_NEONATAL_WITH_CONGENITAL_HYPOTHYROIDISM 1 DIABETES_MELLITUS_NEONATAL_WITH_CONGENITAL_HYPOTHYROIDISM
X-LINKED_TRICHOTHIODYSTROPHY 1 X-LINKED_TRICHOTHIODYSTROPHY
AICARDI-GOUTIERES_SYNDROME_ASSOCIATED_WITH_A_TYPE_I_INTERFERON_SIGNATURE_BIALLELIC 1 AICARDI-GOUTIERES_SYNDROME_ASSOCIATED_WITH_A_TYPE_I_INTERFERON_SIGNATURE_BIALLELIC
BRUNNER_SYNDROME 1 BRUNNER_SYNDROME
CARPENTER_SYNDROME 1 CARPENTER_SYNDROME
TRICHOHEPATOENTERIC_SYNDROME_2 1 TRICHOHEPATOENTERIC_SYNDROME_2
BARDET-BIEDL_SYNDROME_TYPE_12 1 BARDET-BIEDL_SYNDROME_TYPE_12
ODAPH-related_Amyelogenesis_Imperfecta 1 ODAPH-related_Amyelogenesis_Imperfecta
RHABDOID_TUMOR_PREDISPOSITION_SYNDROME_2 1 RHABDOID_TUMOR_PREDISPOSITION_SYNDROME_2
OSTEOGENESIS_IMPERFECTA_TYPE_V 1 OSTEOGENESIS_IMPERFECTA_TYPE_V
NIEMANN-PICK_DISEASE,_TYPE_C2 1 NIEMANN-PICK_DISEASE,_TYPE_C2
SUSCEPTIBILITY_TO_AUTISM_TYPE_16 1 SUSCEPTIBILITY_TO_AUTISM_TYPE_16
CIC-related_neurodevelopmental_disorder 1 CIC-related_neurodevelopmental_disorder
RICHIERI-COSTA-PEREIRA_SYNDROME 1 RICHIERI-COSTA-PEREIRA_SYNDROME
EPILEPSY,_CHILDHOOD_ABSENCE,_SUSCEPTIBILITY_TO,_6 1 EPILEPSY,_CHILDHOOD_ABSENCE,_SUSCEPTIBILITY_TO,_6
INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AUTOSOMAL_RECESSIVE_12 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AUTOSOMAL_RECESSIVE_12
KCNQ2-related_epileptic_encephalopathy 1 KCNQ2-related_epileptic_encephalopathy
INFANTILE_EPILEPTIC_ENCEPHALOPATHY_AND/OR_INTELLECTUAL_DISABILITY 1 INFANTILE_EPILEPTIC_ENCEPHALOPATHY_AND/OR_INTELLECTUAL_DISABILITY
INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_WITH_EPILEPSY 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_WITH_EPILEPSY
AUTOSOMAL-RECESSIVE_DISORDER_WITH_CONGENITAL_CATARACTS,_HEARING_LOSS,_AND_LOW_SERUM_COPPER_AND_CERULOPLASMIN 1 AUTOSOMAL-RECESSIVE_DISORDER_WITH_CONGENITAL_CATARACTS,_HEARING_LOSS,_AND_LOW_SERUM_COPPER_AND_CERULOPLASMIN
AARSKOG-SCOTT_SYNDROME 1 AARSKOG-SCOTT_SYNDROME
CRANIOOSTEOARTHROPATHY 1 CRANIOOSTEOARTHROPATHY
TDRD7-related_cataract_with_or_without_azoospermia 1 TDRD7-related_cataract_with_or_without_azoospermia
CLEIDOCRANIAL_DYSPLASIA_WITH_MICROGNATHIA,_ABSENT_THUMBS,_AND_DISTAL_APHALANGIA_YUNIS-VARON_SYNDROME 1 CLEIDOCRANIAL_DYSPLASIA_WITH_MICROGNATHIA,_ABSENT_THUMBS,_AND_DISTAL_APHALANGIA_YUNIS-VARON_SYNDROME
EPILEPSY,_GENERALIZED,_WITH_FEBRILE_SEIZURES_PLUS,_TYPE_3 1 EPILEPSY,_GENERALIZED,_WITH_FEBRILE_SEIZURES_PLUS,_TYPE_3
KLIPPEL-FEIL_ANOMALY 1 KLIPPEL-FEIL_ANOMALY
CHOREOATHETOSIS,_HYPOTHYROIDISM,_AND_NEONATAL_RESPIRATORY_DISTRESS 1 CHOREOATHETOSIS,_HYPOTHYROIDISM,_AND_NEONATAL_RESPIRATORY_DISTRESS
CRANIOSYNOSTOSIS_AND_DENTAL_ANOMALIES 1 CRANIOSYNOSTOSIS_AND_DENTAL_ANOMALIES
NEPHRONOPHTHISIS-LIKE_NEPHROPATHY_TYPE_1 1 NEPHRONOPHTHISIS-LIKE_NEPHROPATHY_TYPE_1
3-M_SYNDROME_1 1 3-M_SYNDROME_1
BRUGADA_SYNDROME_5 1 BRUGADA_SYNDROME_5
WARBURG_MICRO_SYNDROME_TYPE_1 1 WARBURG_MICRO_SYNDROME_TYPE_1
MULTIPLE_EPIPHYSEAL_DYSPLASIA_TYPE_1 1 MULTIPLE_EPIPHYSEAL_DYSPLASIA_TYPE_1
SENIOR-LOKEN_SYNDROME_7 1 SENIOR-LOKEN_SYNDROME_7
NEPHRONOPHTHISIS_TYPE_3 1 NEPHRONOPHTHISIS_TYPE_3
MARSHALL-SMITH_SYNDROME 1 MARSHALL-SMITH_SYNDROME
SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_AGGRECAN_TYPE 1 SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_AGGRECAN_TYPE
RENPENNING_SYNDROME_1 1 RENPENNING_SYNDROME_1
MICROCEPHALY_PRIMARY_TYPE_1 1 MICROCEPHALY_PRIMARY_TYPE_1
NEXMIF-related_Intellectual_disability_and_epilepsy_(XLR) 1 NEXMIF-related_Intellectual_disability_and_epilepsy_(XLR)
PRIMARY_CILIARY_DYSKINESIA_ASSOCIATED_WITH_DEFECTIVE_OUTER_AND_INNER_DYNEIN_ARMS. 1 PRIMARY_CILIARY_DYSKINESIA_ASSOCIATED_WITH_DEFECTIVE_OUTER_AND_INNER_DYNEIN_ARMS.
ARTHROGRYPOSIS,_LETHAL,_WITH_ANTERIOR_HORN_CELL_DISEASE 1 ARTHROGRYPOSIS,_LETHAL,_WITH_ANTERIOR_HORN_CELL_DISEASE
CILIARY_DYSKINESIA,_PRIMARY,_14 1 CILIARY_DYSKINESIA,_PRIMARY,_14
MACROTHROMBOCYTOPENIA_AND_GRANULOCYTE_INCLUSIONS_WITH_OR_WITHOUT_NEPHRITIS_OR_SENSORINEURAL_HEARING_LOSS 1 MACROTHROMBOCYTOPENIA_AND_GRANULOCYTE_INCLUSIONS_WITH_OR_WITHOUT_NEPHRITIS_OR_SENSORINEURAL_HEARING_LOSS
OMODYSPLASIA_TYPE_1_(OMOD1) 1 OMODYSPLASIA_TYPE_1_(OMOD1)
KERATOSIS_LINEARIS_WITH_ICHTHYOSIS_CONGENITA_AND_SCLEROSING_KERATODERMA 1 KERATOSIS_LINEARIS_WITH_ICHTHYOSIS_CONGENITA_AND_SCLEROSING_KERATODERMA
WEAVER_SYNDROME_2 1 WEAVER_SYNDROME_2
CHONDRODYSPLASIA_BLOMSTRAND_TYPE 1 CHONDRODYSPLASIA_BLOMSTRAND_TYPE
MITOCHONDRIAL_DNA_DEPLETION_SYNDROME,_MYOPATHIC_FORM 1 MITOCHONDRIAL_DNA_DEPLETION_SYNDROME,_MYOPATHIC_FORM
GLUTARIC_ACIDURIA_TYPE_2B 1 GLUTARIC_ACIDURIA_TYPE_2B
PLXND1-related_cardiac_malformation_syndrome 1 PLXND1-related_cardiac_malformation_syndrome
NORTH_AMERICAN_INDIAN_CHILDHOOD_CIRRHOSIS 1 NORTH_AMERICAN_INDIAN_CHILDHOOD_CIRRHOSIS
BURN_MCKEOWN_SYNDROME 1 BURN_MCKEOWN_SYNDROME
SPONDYLOEPIPHYSEAL_DYSPLASIA_CONGENITA 1 SPONDYLOEPIPHYSEAL_DYSPLASIA_CONGENITA
IFIH1-related_Singleton-Merten_syndrome 1 IFIH1-related_Singleton-Merten_syndrome
RENAL_HYPODYSPLASIA/APLASIA_1 1 RENAL_HYPODYSPLASIA/APLASIA_1
MEIER-GORLIN_SYNDROME_3 1 MEIER-GORLIN_SYNDROME_3
POU1F1-RELATED_COMBINED_PITUITARY_HORMONE_DEFICIENCY 1 POU1F1-RELATED_COMBINED_PITUITARY_HORMONE_DEFICIENCY
INTELLECTUAL_DISABILTIY 1 INTELLECTUAL_DISABILTIY
STICKLER_SYNDROME,_TYPE_II 1 STICKLER_SYNDROME,_TYPE_II
CEREBROOCULOFACIOSKELETAL_SYNDROME_4 1 CEREBROOCULOFACIOSKELETAL_SYNDROME_4
INTELLECTUAL_DEVELOPMENTAL_DISORDER_AUTOSOMAL_RECESSIVE_TYPE_3 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER_AUTOSOMAL_RECESSIVE_TYPE_3
OROFACIODIGITAL_SYNDROME 1 OROFACIODIGITAL_SYNDROME
MICROPHTHALMIA_WITH_LINEAR_SKIN_DEFECTS_SYNDROME 1 MICROPHTHALMIA_WITH_LINEAR_SKIN_DEFECTS_SYNDROME
GM2-GANGLIOSIDOSIS_TYPE_AB 1 GM2-GANGLIOSIDOSIS_TYPE_AB
MUCOLIPIDOSIS_IV 1 MUCOLIPIDOSIS_IV
COMPLEX_CRANIOSYNOSTOSIS 1 COMPLEX_CRANIOSYNOSTOSIS
MANDIBULOFACIAL_DYSOSTOSIS_WITH_ALOPECIA 1 MANDIBULOFACIAL_DYSOSTOSIS_WITH_ALOPECIA
DYGGVE-MELCHIOR-CLAUSEN_SYNDROME/SMITH-MCCORT_DYSPLASIA 1 DYGGVE-MELCHIOR-CLAUSEN_SYNDROME/SMITH-MCCORT_DYSPLASIA
BILE_ACID_SYNTHESIS_DEFECT,_CONGENITAL,_2 1 BILE_ACID_SYNTHESIS_DEFECT,_CONGENITAL,_2
ACUTE_NECROTIZING_ENCEPHALOPATHY_1,_SUSCEPTIBILITY_TO 1 ACUTE_NECROTIZING_ENCEPHALOPATHY_1,_SUSCEPTIBILITY_TO
8Q24.3_DELETION-LIKE 1 8Q24.3_DELETION-LIKE
HYPERPHOSPHATASIA_WITH_INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROME_4 1 HYPERPHOSPHATASIA_WITH_INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROME_4
NEUROPATHY,_HEREDITARY_SENSORY_AND_AUTONOMIC,_TYPE_IC 1 NEUROPATHY,_HEREDITARY_SENSORY_AND_AUTONOMIC,_TYPE_IC
VERY_LONG_CHAIN_ACYL-COENZYME_A_DEHYDROGENASE_DEFICIENCY 1 VERY_LONG_CHAIN_ACYL-COENZYME_A_DEHYDROGENASE_DEFICIENCY
LIMB-MAMMARY_SYNDROME 1 LIMB-MAMMARY_SYNDROME
BARTTER_SYNDROME_TYPE_4A 1 BARTTER_SYNDROME_TYPE_4A
EHMT1-like_SYNDROME 1 EHMT1-like_SYNDROME
CAMPOMELIC_DYSPLASIA 1 CAMPOMELIC_DYSPLASIA
DOORS_SYNDROME 1 DOORS_SYNDROME
SEVERE_ASPHYXIATING_THORACIC_DYSPLASIA 1 SEVERE_ASPHYXIATING_THORACIC_DYSPLASIA
ASPERGER 1 ASPERGER
IMMUNODEFICIENCY_23 1 IMMUNODEFICIENCY_23
FATAL_INFANTILE_LACTIC_ACIDOSIS 1 FATAL_INFANTILE_LACTIC_ACIDOSIS
LRP5_-_OSTEOPOROSIS-PSEUDOGLIOMA_SYNDROME_on_a_spectrum_with_FEVR_with_osteopenia 1 LRP5_-_OSTEOPOROSIS-PSEUDOGLIOMA_SYNDROME_on_a_spectrum_with_FEVR_with_osteopenia
ANIRIDIA 1 ANIRIDIA
INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_30 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_30
SLC31A1-associated_congenital_copper_transport_disorder 1 SLC31A1-associated_congenital_copper_transport_disorder
FANCI-related_Fanconi_anemia 1 FANCI-related_Fanconi_anemia
UNVERRICHT-LUNDBORG_DISEASE 1 UNVERRICHT-LUNDBORG_DISEASE
DENTINOGENESIS_IMPERFECTA,_SHIELDS_TYPE_II 1 DENTINOGENESIS_IMPERFECTA,_SHIELDS_TYPE_II
DOPA-RESPONSIVE_DYSTONIA 1 DOPA-RESPONSIVE_DYSTONIA
INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_95 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_95
MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_LIMB-GIRDLE_TYPE_C3 1 MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_LIMB-GIRDLE_TYPE_C3
PRIMARY_CILARY_DYSKINESIA 1 PRIMARY_CILARY_DYSKINESIA
NIJMEGEN_BREAKAGE_SYNDROME-LIKE_DISORDER 1 NIJMEGEN_BREAKAGE_SYNDROME-LIKE_DISORDER
AICARDI-GOUTIERES_SYNDROME_3 1 AICARDI-GOUTIERES_SYNDROME_3
MULLERIAN_APLASIA_AND_HYPERANDROGENISM 1 MULLERIAN_APLASIA_AND_HYPERANDROGENISM
CILIARY_DYSKINESIA,_PRIMARY,_15 1 CILIARY_DYSKINESIA,_PRIMARY,_15
FAMILIAL_DIARRHEA_DIARRHEA_6 1 FAMILIAL_DIARRHEA_DIARRHEA_6
POSTNATAL_MICROCEPHALY,_HYPOMYELINATION,_AND_REDUCED_CEREBRAL_WHITE-MATTER_VOLUME 1 POSTNATAL_MICROCEPHALY,_HYPOMYELINATION,_AND_REDUCED_CEREBRAL_WHITE-MATTER_VOLUME
FANCONI_ANEMIA 1 FANCONI_ANEMIA
SHWACHMAN-DIAMOND_SYNDROME 1 SHWACHMAN-DIAMOND_SYNDROME
BILATERAL_DIFFUSE_POLYMICROGYRIA 1 BILATERAL_DIFFUSE_POLYMICROGYRIA
INSULIN-LIKE_GROWTH_FACTOR_I_DEFICIENCY 1 INSULIN-LIKE_GROWTH_FACTOR_I_DEFICIENCY
METATROPIC_DYSPLASIA 1 METATROPIC_DYSPLASIA
ID,_MACROCEPHALY_AND_CEREBELLAR_HYPOPLASIA 1 ID,_MACROCEPHALY_AND_CEREBELLAR_HYPOPLASIA
FAMILIAL_INFANTILE_MYOFIBROMATOSIS 1 FAMILIAL_INFANTILE_MYOFIBROMATOSIS
PROGEROID_SYNDROME 1 PROGEROID_SYNDROME
DUANE-RADIAL_RAY_SYNDROME 1 DUANE-RADIAL_RAY_SYNDROME
ARGININE:GLYCINE_AMIDINOTRANSFERASE_DEFICIENCY 1 ARGININE:GLYCINE_AMIDINOTRANSFERASE_DEFICIENCY
XIA-GIBBS_SYNDROME 1 XIA-GIBBS_SYNDROME
CONGENITAL_DISORDER_OF_GLYCOSYLATION,_TYPE_IR 1 CONGENITAL_DISORDER_OF_GLYCOSYLATION,_TYPE_IR
Generalized_Arterial_Calcification_of_Infancy_and_Hypophosphataemic_Rickets 1 Generalized_Arterial_Calcification_of_Infancy_and_Hypophosphataemic_Rickets
WARBURG_MICRO_SYNDROME_TYPE_3 1 WARBURG_MICRO_SYNDROME_TYPE_3
ATYPICAL_DOMINANT_FANCONI_SYNDROME_WITH_MODY 1 ATYPICAL_DOMINANT_FANCONI_SYNDROME_WITH_MODY
MULTIPLE_PTERYGIUM_SYNDROME_LETHAL_TYPE 1 MULTIPLE_PTERYGIUM_SYNDROME_LETHAL_TYPE
MICROPHTHALMIA_ISOLATED_TYPE_5 1 MICROPHTHALMIA_ISOLATED_TYPE_5
CHONDROCALCINOSIS_2 1 CHONDROCALCINOSIS_2
EPILEPTIC_ENCEPHALOPATHY_EARLY_INFANTILE_TYPE_2 1 EPILEPTIC_ENCEPHALOPATHY_EARLY_INFANTILE_TYPE_2
EPILEPTIC_ENCEPHALOPATHY,_EARLY_INFANTILE,_26 1 EPILEPTIC_ENCEPHALOPATHY,_EARLY_INFANTILE,_26
ATYPICAL_KRABBE_DISEASE 1 ATYPICAL_KRABBE_DISEASE
GMPPA-related_alacrima,_achalasia_and_intellectual_disability 1 GMPPA-related_alacrima,_achalasia_and_intellectual_disability
TPP1-related_neuronal_ceroid_lipofuscinosis 1 TPP1-related_neuronal_ceroid_lipofuscinosis
ARTHROGRYPOSIS,_DISTAL,_TYPE_3 1 ARTHROGRYPOSIS,_DISTAL,_TYPE_3
PRIMROSE_SYNDROME 1 PRIMROSE_SYNDROME
MRX_WITH/WITHOUT_NYSTAGMUS 1 MRX_WITH/WITHOUT_NYSTAGMUS
POLYMICROGYRIA_AND_CORPUS_CALLOSUM_AGENESIS 1 POLYMICROGYRIA_AND_CORPUS_CALLOSUM_AGENESIS
ARTHROGRYPOSIS,_RENAL_DYSFUNCTION,_AND_CHOLESTASIS_2 1 ARTHROGRYPOSIS,_RENAL_DYSFUNCTION,_AND_CHOLESTASIS_2
WOLFRAM_SYNDROME_TYPE_2 1 WOLFRAM_SYNDROME_TYPE_2
EPILEPTIC_ENCEPHALOPATHY,_EARLY_INFANTILE,_13 1 EPILEPTIC_ENCEPHALOPATHY,_EARLY_INFANTILE,_13
WARSAW_BREAKAGE_SYNDROME 1 WARSAW_BREAKAGE_SYNDROME
GENITOPATELLAR_SYNDROME 1 GENITOPATELLAR_SYNDROME
ACROFACIAL_DYSOSTOSIS,_CINCINNATI_TYPE 1 ACROFACIAL_DYSOSTOSIS,_CINCINNATI_TYPE
MUCOPOLYSACCHARIDOSIS_TYPE_4A 1 MUCOPOLYSACCHARIDOSIS_TYPE_4A
COBALAMIN_DISORDER 1 COBALAMIN_DISORDER
COG8-CDG 1 COG8-CDG
CATARACT,_CONGENITAL,_CERULEAN_TYPE,_2 1 CATARACT,_CONGENITAL,_CERULEAN_TYPE,_2
EHLERS-DANLOS_SYNDROME,_KYPHOSCOLIOTIC_FORM 1 EHLERS-DANLOS_SYNDROME,_KYPHOSCOLIOTIC_FORM
MITOCHONDRIAL_RESPIRATORY_CHAIN_COMPLEX_III_DEFICIENCY,_UQCRB-RELATED 1 MITOCHONDRIAL_RESPIRATORY_CHAIN_COMPLEX_III_DEFICIENCY,_UQCRB-RELATED
DUCHENNE_MUSCULAR_DYSTROPHY 1 DUCHENNE_MUSCULAR_DYSTROPHY
CILIARY_DYSKINESIA,_PRIMARY,_5 1 CILIARY_DYSKINESIA,_PRIMARY,_5
MOHR-MAJEWSKI_SYNDROME 1 MOHR-MAJEWSKI_SYNDROME
SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_WITH_JOINT_LAXITY,_TYPE_2 1 SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_WITH_JOINT_LAXITY,_TYPE_2
NEPHRONOPHTHISIS_7 1 NEPHRONOPHTHISIS_7
BOHRING-OPITZ_SYNDROME 1 BOHRING-OPITZ_SYNDROME
SEVERE_ID_WITH_NEURONAL_MIGRATION_DISORDER 1 SEVERE_ID_WITH_NEURONAL_MIGRATION_DISORDER
LISSENCEPHALY_X-LINKED_TYPE_1 1 LISSENCEPHALY_X-LINKED_TYPE_1
NOONAN-LIKE_SYNDROME_WITH_LOOSE_ANAGEN_HAIR 1 NOONAN-LIKE_SYNDROME_WITH_LOOSE_ANAGEN_HAIR
EHLERS-DANLOS_SYNDROME-LIKE_SPONDYLOCHEIRODYSPLASIA 1 EHLERS-DANLOS_SYNDROME-LIKE_SPONDYLOCHEIRODYSPLASIA
WOLCOTT-RALLISON_SYNDROME 1 WOLCOTT-RALLISON_SYNDROME
CEROID_LIPOFUSCINOSIS,_NEURONAL,_KUFS_TYPE,_ADULT_ONSET 1 CEROID_LIPOFUSCINOSIS,_NEURONAL,_KUFS_TYPE,_ADULT_ONSET
COMBINED_OXIDATIVE_PHOSPHORYLATION_DEFICIENCY_6 1 COMBINED_OXIDATIVE_PHOSPHORYLATION_DEFICIENCY_6
NEU-LAXOVA_SYNDROME 1 NEU-LAXOVA_SYNDROME
Poikiloderma_with_neutropenia 1 Poikiloderma_with_neutropenia
Viral_induced_severe_multiorgan_dysfunction_associated_with_impaired_mitochondrial_fission 1 Viral_induced_severe_multiorgan_dysfunction_associated_with_impaired_mitochondrial_fission
MACROCEPHALY,_ALOPECIA,_CUTIS_LAXA,_AND_SCOLIOSIS_TALL_FOREHEAD,_SPARSE_HAIR,_SKIN_HYPEREXTENSIBILITY,_AND_SCOLIOSIS 1 MACROCEPHALY,_ALOPECIA,_CUTIS_LAXA,_AND_SCOLIOSIS_TALL_FOREHEAD,_SPARSE_HAIR,_SKIN_HYPEREXTENSIBILITY,_AND_SCOLIOSIS
HACE1_related_disorder 1 HACE1_related_disorder
MMP21-associated_heterotaxy 1 MMP21-associated_heterotaxy
Pseudohypoparathyroidism-like_disorder 1 Pseudohypoparathyroidism-like_disorder
Focal_epilepsy 1 Focal_epilepsy
Episodes_of_Liver_Failure,_Peripheral_Neuropathy,_Cerebellar_Atrophy,_and_Ataxia 1 Episodes_of_Liver_Failure,_Peripheral_Neuropathy,_Cerebellar_Atrophy,_and_Ataxia
Congenital_Myasthenic_Syndrome_Type_19 1 Congenital_Myasthenic_Syndrome_Type_19
Intellectual_Disability_with_Cerebellar_Atrophy 1 Intellectual_Disability_with_Cerebellar_Atrophy
Autosomal-Dominant_Primordial_Dwarfism_Associated_with_Meier-Gorlin_Syndrome 1 Autosomal-Dominant_Primordial_Dwarfism_Associated_with_Meier-Gorlin_Syndrome
Dysmorphic_Features,_Intellectual_Disability,_and_Neurological_Manifestations 1 Dysmorphic_Features,_Intellectual_Disability,_and_Neurological_Manifestations
TERT-related_Dyskeratosis_congenita 1 TERT-related_Dyskeratosis_congenita
EXUDATIVE_RETINOPATHY_WITH_BONE_MARROW_FAILURE 1 EXUDATIVE_RETINOPATHY_WITH_BONE_MARROW_FAILURE
ARTHROGRYPOSIS,_DISTAL,_TYPE_1 1 ARTHROGRYPOSIS,_DISTAL,_TYPE_1
Transcobalamin_II_deficiency 1 Transcobalamin_II_deficiency
INTELLECTUAL_DEVELOPMENTAL_DISORDER,_X-linked,_syndromic_32 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER,_X-linked,_syndromic_32
ULLRICH_CONGENITAL_MUSCULAR_DYSTROPHY_1 1 ULLRICH_CONGENITAL_MUSCULAR_DYSTROPHY_1
LETHAL_CONGENITAL_CONTRACTURE_SYNDROME_9 1 LETHAL_CONGENITAL_CONTRACTURE_SYNDROME_9
SPONDYLOOCULAR_SYNDROME 1 SPONDYLOOCULAR_SYNDROME
OSTEOGENESIS_IMPERFECTA,_TYPE_XVII 1 OSTEOGENESIS_IMPERFECTA,_TYPE_XVII
FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_T 1 FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_T
CONGENITAL_ANOMALIES_OF_KIDNEY_AND_URINARY_TRACT_2 1 CONGENITAL_ANOMALIES_OF_KIDNEY_AND_URINARY_TRACT_2
INTELLECTUAL_DEVELOPMENTAL_DISORDER,_X-LINKED_12 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER,_X-LINKED_12
CRANIOSYNOSTOSIS_6 1 CRANIOSYNOSTOSIS_6
EPILEPSY,_HEARING_LOSS,_AND_INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROME 1 EPILEPSY,_HEARING_LOSS,_AND_INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROME
PREMATURE_AGING_SYNDROME,_PENTTINEN_TYPE 1 PREMATURE_AGING_SYNDROME,_PENTTINEN_TYPE
ADAMS-OLIVER_SYNDROME_6 1 ADAMS-OLIVER_SYNDROME_6
CUTIS_LAXA,_AUTOSOMAL_DOMINANT_3 1 CUTIS_LAXA,_AUTOSOMAL_DOMINANT_3
COMPLEX_LETHAL_OSTEOCHONDRODYSPLASIA 1 COMPLEX_LETHAL_OSTEOCHONDRODYSPLASIA
PROGRESSIVE_SPONDYLOEPIMETAPHYSEAL_DYSPLASIA 1 PROGRESSIVE_SPONDYLOEPIMETAPHYSEAL_DYSPLASIA
INTRA-MITOCHONDRIAL_METHYLATION_DEFICIENCY 1 INTRA-MITOCHONDRIAL_METHYLATION_DEFICIENCY
EARLY-ONSET_RECESSIVE_OPTIC_NEUROPATHY 1 EARLY-ONSET_RECESSIVE_OPTIC_NEUROPATHY
WAARDENBURG_SYNDROME_TYPE_2 1 WAARDENBURG_SYNDROME_TYPE_2
MICROCEPHALY_15,_PRIMARY,_AUTOSOMAL_RECESSIVE 1 MICROCEPHALY_15,_PRIMARY,_AUTOSOMAL_RECESSIVE
HEREDITARY_SENSORY_&_AUTONOMIC_NEUROPATHY_TYPE_VIII 1 HEREDITARY_SENSORY_&_AUTONOMIC_NEUROPATHY_TYPE_VIII
CRIPT-related_short_stature,_microcephaly,_poikiloderma_and_skeletal_abnormalities_(Rothmund_Thomson_like) 1 CRIPT-related_short_stature,_microcephaly,_poikiloderma_and_skeletal_abnormalities_(Rothmund_Thomson_like)
D-2-HYDROXYGLUTARIC_ACIDURIA_1 1 D-2-HYDROXYGLUTARIC_ACIDURIA_1
LETHAL_CONGENITAL_CONTRACTURE_SYNDROME_7 1 LETHAL_CONGENITAL_CONTRACTURE_SYNDROME_7
EHLERS-DANLOS_SYNDROME,_MUSCULOCONTRACTURAL_TYPE_2 1 EHLERS-DANLOS_SYNDROME,_MUSCULOCONTRACTURAL_TYPE_2
CEREBELLAR_ATAXIA,_INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AND_DYSEQUILIBRIUM_SYNDROME_2 1 CEREBELLAR_ATAXIA,_INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AND_DYSEQUILIBRIUM_SYNDROME_2
HYDROCEPHALUS,_NONSYNDROMIC,_AUTOSOMAL_RECESSIVE 1 HYDROCEPHALUS,_NONSYNDROMIC,_AUTOSOMAL_RECESSIVE
LEIGH_SYNDROME_DUP 1 LEIGH_SYNDROME_DUP
HYPERPHOSPHATASIA_WITH_INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROME_5 1 HYPERPHOSPHATASIA_WITH_INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROME_5
SPONDYLOMETAPHYSEAL_DYSPLASIA,_SEDAGHATIAN_TYPE 1 SPONDYLOMETAPHYSEAL_DYSPLASIA,_SEDAGHATIAN_TYPE
CNOT3_syndrome 1 CNOT3_syndrome
CSNK2A1_syndrome 1 CSNK2A1_syndrome
GNAI1_syndrome 1 GNAI1_syndrome
KCNQ3_syndrome 1 KCNQ3_syndrome
Autism 1 Autism
MSL3_syndrome 1 MSL3_syndrome
MYT1L_syndrome 1 MYT1L_syndrome
PPM1D_syndrome 1 PPM1D_syndrome
PUF60_syndrome 1 PUF60_syndrome
QRICH1_syndrome 1 QRICH1_syndrome
SET_syndrome 1 SET_syndrome
KMT5B_syndrome 1 KMT5B_syndrome
TCF20_syndrome 1 TCF20_syndrome
ZBTB18_syndrome 1 ZBTB18_syndrome
Desanto-Shinawi_syndrome 1 Desanto-Shinawi_syndrome
Persistent_Hypotonia,_Encephalopathy,_Growth_Retardation,_and_Severe_Intellectual_Disability 1 Persistent_Hypotonia,_Encephalopathy,_Growth_Retardation,_and_Severe_Intellectual_Disability
Disorder_of_Golgi_homeostasis 1 Disorder_of_Golgi_homeostasis
Infancy-Onset_Recurrent_Metabolic_Crises_with_Encephalocardiomyopathy 1 Infancy-Onset_Recurrent_Metabolic_Crises_with_Encephalocardiomyopathy
EMC1-related_global_developmental_delay,_hypotonia,_scoliosis,_and_cerebellar_atrophy 1 EMC1-related_global_developmental_delay,_hypotonia,_scoliosis,_and_cerebellar_atrophy
Encephalocraniocutaneous_lipomatosis 1 Encephalocraniocutaneous_lipomatosis
Intellectual_Disability_with_Seizures_and_Hypotonia 1 Intellectual_Disability_with_Seizures_and_Hypotonia
DNA_Repair-Proficient_Trichothiodystrophy 1 DNA_Repair-Proficient_Trichothiodystrophy
SMG9_Multiple_Congenital_Anomaly_Syndrome 1 SMG9_Multiple_Congenital_Anomaly_Syndrome
Childhood-Onset_Chorea_with_Bilateral_Striatal_Lesions 1 Childhood-Onset_Chorea_with_Bilateral_Striatal_Lesions
Severe_Infantile_Syndromic_Encephalopathy 1 Severe_Infantile_Syndromic_Encephalopathy
TELO2_Syndromic_Intellectual_Disability_Disorder 1 TELO2_Syndromic_Intellectual_Disability_Disorder
Phenocopy_of_Proximal_1p36_Deletions 1 Phenocopy_of_Proximal_1p36_Deletions
Gillespie_Syndrome,_monoallelic 1 Gillespie_Syndrome,_monoallelic
Mitochondrial_RNA_Processing_and_Multiple_Respiratory_Chain_Deficiencies 1 Mitochondrial_RNA_Processing_and_Multiple_Respiratory_Chain_Deficiencies
Severe_Neurodevelopmental_Disability,_Hypotonia,_and_Seizures 1 Severe_Neurodevelopmental_Disability,_Hypotonia,_and_Seizures
GNB3_Autosomal-Recessive_Congenital_Stationary_Night_Blindness. 1 GNB3_Autosomal-Recessive_Congenital_Stationary_Night_Blindness.
Isolated_Nonsyndromic_Patent_Ductus_Arteriosus. 1 Isolated_Nonsyndromic_Patent_Ductus_Arteriosus.
Riboflavin-Responsive_and_Non-responsive_Multiple_Acyl-CoA_Dehydrogenase_and_Combined_Respiratory-Chain_Deficiency. 1 Riboflavin-Responsive_and_Non-responsive_Multiple_Acyl-CoA_Dehydrogenase_and_Combined_Respiratory-Chain_Deficiency.
Ataxia-Pancytopenia_Syndrome 1 Ataxia-Pancytopenia_Syndrome
Duane_Syndrome,_Aberrant_Extraocular_Muscle_Innervation,_and_Inner-Ear_Defects 1 Duane_Syndrome,_Aberrant_Extraocular_Muscle_Innervation,_and_Inner-Ear_Defects
Short_Stature,_Developmental_Delay,_and_Congenital_Heart_Defects 1 Short_Stature,_Developmental_Delay,_and_Congenital_Heart_Defects
X-Linked_Spondyloepimetaphyseal_Dysplasia 1 X-Linked_Spondyloepimetaphyseal_Dysplasia
Epileptic_encephalopathy_with_continuous_spike-and-wave_during_sleep 1 Epileptic_encephalopathy_with_continuous_spike-and-wave_during_sleep
Curry-Jones_Syndrome 1 Curry-Jones_Syndrome
Combined_immunodeficiency 1 Combined_immunodeficiency
Autosomal_Dominant_Coloboma 1 Autosomal_Dominant_Coloboma
COL6A1_associated_myopathy 1 COL6A1_associated_myopathy
Meier-Gorlin_Syndrome_and_Craniosynostosis 1 Meier-Gorlin_Syndrome_and_Craniosynostosis
Autosomal-Dominant_Tubulo-Interstitial_and_Glomerulocystic_Kidney_Disease_with_Anemia 1 Autosomal-Dominant_Tubulo-Interstitial_and_Glomerulocystic_Kidney_Disease_with_Anemia
Progressive_neurological_disorder_and_regression_of_developmental_milestones 1 Progressive_neurological_disorder_and_regression_of_developmental_milestones
Muscle_Weakness_and_Isolated_Complex_I_Deficiency 1 Muscle_Weakness_and_Isolated_Complex_I_Deficiency
Pontocerebellar_Hypoplasia_and_Progressive_Microcephaly 1 Pontocerebellar_Hypoplasia_and_Progressive_Microcephaly
Coats_Plus 1 Coats_Plus
CCDC88A-related_PEHO-like_syndrome_with_neuronal_migration_disorder,_seizures_and_microcephaly 1 CCDC88A-related_PEHO-like_syndrome_with_neuronal_migration_disorder,_seizures_and_microcephaly
Rasopathy_with_developmental_delay,_short_stature_and_sparse_slow-growing_hair 1 Rasopathy_with_developmental_delay,_short_stature_and_sparse_slow-growing_hair
ATAD3A_disorder_-_global_developmental_delay,_hypotonia,_optic_atrophy,_axonal_neuropathy,_and_hypertrophic_cardiomyopathy 1 ATAD3A_disorder_-_global_developmental_delay,_hypotonia,_optic_atrophy,_axonal_neuropathy,_and_hypertrophic_cardiomyopathy
Geroderma_osteodysplasticum 1 Geroderma_osteodysplasticum
Hereditary_1,25-dihydroxyvitamin_D-resistant_rickets 1 Hereditary_1,25-dihydroxyvitamin_D-resistant_rickets
Severe_Infantile-Onset_Encephalopathy 1 Severe_Infantile-Onset_Encephalopathy
Cousin_Syndrome;_Craniofacial_Dysmorphism,_Hypoplasia_of_Scapula_and_Pelvis,_and_Short_Stature 1 Cousin_Syndrome;_Craniofacial_Dysmorphism,_Hypoplasia_of_Scapula_and_Pelvis,_and_Short_Stature
Cherubism 1 Cherubism
Syndromic_congenital_heart_defects 1 Syndromic_congenital_heart_defects
Gomez-Lopez-Fernandes_syndrome 1 Gomez-Lopez-Fernandes_syndrome
TLK2_syndrome 1 TLK2_syndrome
Sudden_arrhythmic_cardiac_death_after_infectious_or_alcohol_trigger 1 Sudden_arrhythmic_cardiac_death_after_infectious_or_alcohol_trigger
X-linked_anophthalmia_syndrome 1 X-linked_anophthalmia_syndrome
Isolated_Arhinia/Bosma_Arhinia_syndrome 1 Isolated_Arhinia/Bosma_Arhinia_syndrome
OAVS/Goldenhar_syndrome 1 OAVS/Goldenhar_syndrome
Laterality_defects 1 Laterality_defects
Autosomal_Recessive_Craniosynostosis 1 Autosomal_Recessive_Craniosynostosis
Syndromic_ID_with_severe_microcephaly 1 Syndromic_ID_with_severe_microcephaly
Severe_microcephaly,_short_stature_and_intellectual_disability 1 Severe_microcephaly,_short_stature_and_intellectual_disability
microcephaly 1 microcephaly
Microcephalic_dwarfism 1 Microcephalic_dwarfism
Early-onset_mitochondrial_syndrome_associated_with_3-methylglutaconic_aciduria 1 Early-onset_mitochondrial_syndrome_associated_with_3-methylglutaconic_aciduria
Congenital_lymphatic_dysplasia_with_hydrops_and/or_lymphoedema 1 Congenital_lymphatic_dysplasia_with_hydrops_and/or_lymphoedema
Leukoencephalopathy_with_cerebral_calcification_&_cysts 1 Leukoencephalopathy_with_cerebral_calcification_&_cysts
Otulin-related_auto_inflammatory_syndrome 1 Otulin-related_auto_inflammatory_syndrome
Severe_pseudo-TORCH_syndrome 1 Severe_pseudo-TORCH_syndrome
Severe_syndromic_form_of_thoracic_aortic_aneurysm_&_dissection 1 Severe_syndromic_form_of_thoracic_aortic_aneurysm_&_dissection
infantile-onset_severe_developmental_delay_and_skeletal_dysplasia 1 infantile-onset_severe_developmental_delay_and_skeletal_dysplasia
tRNA_isopentenyltransferase_deficiency 1 tRNA_isopentenyltransferase_deficiency
Ataxia,_dysmetria,_contractures_&_scoliosis_with_normal_cognition_but_loss_of_discriminative_touch_perception 1 Ataxia,_dysmetria,_contractures_&_scoliosis_with_normal_cognition_but_loss_of_discriminative_touch_perception
BRPF1_associated_syndromic_intellectual_disability_with_ptosis 1 BRPF1_associated_syndromic_intellectual_disability_with_ptosis
HIVEP2_associated_syndromic_developmental_delay_with_intellectual_disability 1 HIVEP2_associated_syndromic_developmental_delay_with_intellectual_disability
Colobomatous_macrophthalmia_with_microcornea_syndrome 1 Colobomatous_macrophthalmia_with_microcornea_syndrome
Colobomatous_microphthalmia,_microcephaly,_intellectual_disability,_and_short_stature 1 Colobomatous_microphthalmia,_microcephaly,_intellectual_disability,_and_short_stature
Complex_early-onset_dystonia 1 Complex_early-onset_dystonia
STAG1_syndromic_intellectual_disability 1 STAG1_syndromic_intellectual_disability
Intraosseous_Vascular_Malformation 1 Intraosseous_Vascular_Malformation
Growth_Retardation_with_Prenatal_Onset,_Intellectual_Disability,_Muscular_Hypotonia,_and_Infantile_Hepatopathy 1 Growth_Retardation_with_Prenatal_Onset,_Intellectual_Disability,_Muscular_Hypotonia,_and_Infantile_Hepatopathy
Congenital_vascular_tumours 1 Congenital_vascular_tumours
Primary_Ciliary_Dyskinesia_with_Left-Right_Body_Asymmetry_Randomization 1 Primary_Ciliary_Dyskinesia_with_Left-Right_Body_Asymmetry_Randomization
Primary_Ciliary_Dyskinesia_and_Male_Infertility 1 Primary_Ciliary_Dyskinesia_and_Male_Infertility
Sinus_Bradycardia_and_Cognitive_Disability 1 Sinus_Bradycardia_and_Cognitive_Disability
Intellectual_Disability,_Congenital_Malformations,_and_Failure_to_Thrive 1 Intellectual_Disability,_Congenital_Malformations,_and_Failure_to_Thrive
Neurodevelopmental_Disorder_in_Females 1 Neurodevelopmental_Disorder_in_Females
Congenital_Myasthenic_Syndrome_with_Episodic_Apnea 1 Congenital_Myasthenic_Syndrome_with_Episodic_Apnea
Bowen-Conradi_syndrome 1 Bowen-Conradi_syndrome
Severe_Epileptic_Encephalopathy_Treatable_with_NMDA_Receptor_Channel_Blockers 1 Severe_Epileptic_Encephalopathy_Treatable_with_NMDA_Receptor_Channel_Blockers
Severe_Early-Onset_Mitochondrial_Disease_and_Loss_of_Mitochondrial_DNA_Copy_Number 1 Severe_Early-Onset_Mitochondrial_Disease_and_Loss_of_Mitochondrial_DNA_Copy_Number
Lethal_Neurometabolic_Disorder_of_Early_Childhood 1 Lethal_Neurometabolic_Disorder_of_Early_Childhood
Intellectual_Disability,_Ataxia,_and_Facial_Dysmorphism 1 Intellectual_Disability,_Ataxia,_and_Facial_Dysmorphism
Spastic_paraplegia,_intellectual_disability,_nystagmus,_and_obesity. 1 Spastic_paraplegia,_intellectual_disability,_nystagmus,_and_obesity.
Intellectual_Disability_Accompanied_by_Epilepsy_and_Autistic_Features 1 Intellectual_Disability_Accompanied_by_Epilepsy_and_Autistic_Features
Lethal_arthroogryposis 1 Lethal_arthroogryposis
Early-Onset_Neurodegenerative_Encephalopathy 1 Early-Onset_Neurodegenerative_Encephalopathy
Early-Onset_Progressive_Encephalopathy_with_Distal_Spinal_Muscular_Atrophy 1 Early-Onset_Progressive_Encephalopathy_with_Distal_Spinal_Muscular_Atrophy
Developmental_delay,_macrocephaly,_and_dysmorphic_features 1 Developmental_delay,_macrocephaly,_and_dysmorphic_features
ARID2-Coffin-Siris_like_disorder 1 ARID2-Coffin-Siris_like_disorder
Epileptic_encephalopathy_with_complex_movement_disorder_and_regression 1 Epileptic_encephalopathy_with_complex_movement_disorder_and_regression
DLG4_related_intellectual_disability 1 DLG4_related_intellectual_disability
HECW2-related_neurodevelopmental_disorder 1 HECW2-related_neurodevelopmental_disorder
MORC2_-_axonal_neuropathy_and_neurodevelopmental_disorder 1 MORC2_-_axonal_neuropathy_and_neurodevelopmental_disorder
TRIP12-related_intellectual_disability_with/without_autism_spectrum_disorder 1 TRIP12-related_intellectual_disability_with/without_autism_spectrum_disorder
Early-Onset_Myopathy_with_Internalized_Nuclei_and_Myofibrillar_Disorganization 1 Early-Onset_Myopathy_with_Internalized_Nuclei_and_Myofibrillar_Disorganization
Glycine_Encephalopathy_with_Arthrogryposis 1 Glycine_Encephalopathy_with_Arthrogryposis
Cobblestone_Lissencephaly 1 Cobblestone_Lissencephaly
Childhood-Onset_Dystonia_and_Optic_Atrophy 1 Childhood-Onset_Dystonia_and_Optic_Atrophy
Vitamin-B6-Dependent_Epilepsy 1 Vitamin-B6-Dependent_Epilepsy
Epileptic_Encephalopathy_with_Optic_Atrophy 1 Epileptic_Encephalopathy_with_Optic_Atrophy
Coloboma,_Osteopetrosis,_Microphthalmia,_Macrocephaly,_Albinism,_and_Deafness 1 Coloboma,_Osteopetrosis,_Microphthalmia,_Macrocephaly,_Albinism,_and_Deafness
Early-Onset_Severe_Encephalopathy 1 Early-Onset_Severe_Encephalopathy
X-Linked_Primary_Ciliary_Dyskinesia_with_Outer_and_Inner_Dynein_Arm_Defects 1 X-Linked_Primary_Ciliary_Dyskinesia_with_Outer_and_Inner_Dynein_Arm_Defects
Childhood-Onset,_Slowly_Progressive_Nemaline_Myopathy 1 Childhood-Onset,_Slowly_Progressive_Nemaline_Myopathy
Hyperphenylalaninemia,_Dystonia,_and_Intellectual_Disability 1 Hyperphenylalaninemia,_Dystonia,_and_Intellectual_Disability
NEXMIF-related_Intellectual_disability_and_epilepsy_(XLD) 1 NEXMIF-related_Intellectual_disability_and_epilepsy_(XLD)
MYH10-related_Multiple_congenital_anomalies 1 MYH10-related_Multiple_congenital_anomalies
Tooth_Agenesis 1 Tooth_Agenesis
PEHO_Like_condition 1 PEHO_Like_condition
HIST1H4C 1 HIST1H4C
Rahman_syndrome 1 Rahman_syndrome
Global_Developmental_Delay,_Multiple_Malformations 1 Global_Developmental_Delay,_Multiple_Malformations
ACTB_Haploinsufficiency_syndrome 1 ACTB_Haploinsufficiency_syndrome
Skeletal_dysplasia_with_severe_neurological_disease 1 Skeletal_dysplasia_with_severe_neurological_disease
Brain_atrophy,_Dandy_Walker_and_Contractures 1 Brain_atrophy,_Dandy_Walker_and_Contractures
Short_stature,_palatal_anomalies,_congenital_heart_disease,_and_skeletal_malformations 1 Short_stature,_palatal_anomalies,_congenital_heart_disease,_and_skeletal_malformations
Beaulieu-Boycott-Innes_syndrome 1 Beaulieu-Boycott-Innes_syndrome
CILIARY_DYSKINESIA,_PRIMARY,_3 1 CILIARY_DYSKINESIA,_PRIMARY,_3
Intellectual_Disability 1 Intellectual_Disability
CFAP410-related_retinal_dystrophy_with_or_without_axial_spondylometaphyseal_dysplasia 1 CFAP410-related_retinal_dystrophy_with_or_without_axial_spondylometaphyseal_dysplasia
Mitochondrial_depletion_syndrome 1 Mitochondrial_depletion_syndrome
Craniofacial_anomalies,_corpus_callosum_dysgenesis,_ptosis,_and_developmental_delay 1 Craniofacial_anomalies,_corpus_callosum_dysgenesis,_ptosis,_and_developmental_delay
Intellectual_Disability,_Seizures,_Abnormal_Gait,_and_Distinctive_Facial_Features 1 Intellectual_Disability,_Seizures,_Abnormal_Gait,_and_Distinctive_Facial_Features
Chitayat_syndrome:_hyperphalangism,_characteristic_facies,_hallux_valgus_and_bronchomalacia 1 Chitayat_syndrome:_hyperphalangism,_characteristic_facies,_hallux_valgus_and_bronchomalacia
Leigh_Syndrome_with_Instability_of_the_Small_Mitoribosomal_Subunit 1 Leigh_Syndrome_with_Instability_of_the_Small_Mitoribosomal_Subunit
Childhood-Onset_Neurodegeneration 1 Childhood-Onset_Neurodegeneration
Mitochondrial_Lipoylation_Defect_Associated_with_Severe_Neonatal_Encephalopathy 1 Mitochondrial_Lipoylation_Defect_Associated_with_Severe_Neonatal_Encephalopathy
Progressive_Childhood_Encephalopathy_and_Golgi_Dysfunction 1 Progressive_Childhood_Encephalopathy_and_Golgi_Dysfunction
Early-Onset_Epilepsy 1 Early-Onset_Epilepsy
Neonatal-onset_epilepsy,_defective_mitochondrial_energy_metabolism,_and_glycine_elevation 1 Neonatal-onset_epilepsy,_defective_mitochondrial_energy_metabolism,_and_glycine_elevation
Leigh_syndrome_with_secondary_deficiency_for_pyruvate_and_alpha-ketoglutarate_dehydrogenase. 1 Leigh_syndrome_with_secondary_deficiency_for_pyruvate_and_alpha-ketoglutarate_dehydrogenase.
Joubert_syndrome_30 1 Joubert_syndrome_30
Intellectual_Disability_with_or_without_Epileptic_Encephalopathy 1 Intellectual_Disability_with_or_without_Epileptic_Encephalopathy
Megacystis_Microcolon_Intestinal_Hypoperistalsis_Syndrome 1 Megacystis_Microcolon_Intestinal_Hypoperistalsis_Syndrome
Progressive_Spastic_Ataxia_and_Hypomyelination 1 Progressive_Spastic_Ataxia_and_Hypomyelination
Lethal_Infantile_Epileptic_Encephalopathy 1 Lethal_Infantile_Epileptic_Encephalopathy
Intellectual_disability_and_epilepsy 1 Intellectual_disability_and_epilepsy
JOINT_LAXITY,_SHORT_STATURE,_AND_MYOPIA 1 JOINT_LAXITY,_SHORT_STATURE,_AND_MYOPIA
CWC27-related_retinitis_pigmentosa,_short_stature,_skeletal_anomalies_and_intellectual_disability_with_or_without_ectodermal_features 1 CWC27-related_retinitis_pigmentosa,_short_stature,_skeletal_anomalies_and_intellectual_disability_with_or_without_ectodermal_features
ARTHROGRYPOSIS_MULTIPLEX_CONGENITA 1 ARTHROGRYPOSIS_MULTIPLEX_CONGENITA
Neurodevelopmental,_Cardiac,_and_Renal_Syndrome 1 Neurodevelopmental,_Cardiac,_and_Renal_Syndrome
Intellectual_Disability_Syndrome_Associated_with_Seizures_and_Dysmorphic_Features 1 Intellectual_Disability_Syndrome_Associated_with_Seizures_and_Dysmorphic_Features
Microcephaly,_hearing_loss,_and_dysmorphic_features 1 Microcephaly,_hearing_loss,_and_dysmorphic_features
Muscular_dystrophy,_congenital,_with_cataracts_and_intellectual_disability 1 Muscular_dystrophy,_congenital,_with_cataracts_and_intellectual_disability
Infantile_Epilepsy,_Cataracts,_and_Profound_Developmental_Delay 1 Infantile_Epilepsy,_Cataracts,_and_Profound_Developmental_Delay
Mosaic_Variegated_Aneuploidy_and_Wilms_Tumour 1 Mosaic_Variegated_Aneuploidy_and_Wilms_Tumour
Midline-bridging_neuronal_commissure_disruption,_horizontal_gaze_palsy,_scoliosis,_and_intellectual_disability 1 Midline-bridging_neuronal_commissure_disruption,_horizontal_gaze_palsy,_scoliosis,_and_intellectual_disability
Congenital_heart_defects_and_skeletal_malformations 1 Congenital_heart_defects_and_skeletal_malformations
Developmental_delay_and_distinctive_facial_features 1 Developmental_delay_and_distinctive_facial_features
3MC 1 3MC
DHRS3_related_craniosynostosis 1 DHRS3_related_craniosynostosis
Peroxisome_biogenesis_disorder_14B 1 Peroxisome_biogenesis_disorder_14B
Posteriorly_predominant_pachygyria_and_severe_microcephaly 1 Posteriorly_predominant_pachygyria_and_severe_microcephaly
Hartsfield_syndrome 1 Hartsfield_syndrome
Severe_Growth_Retardation,_Spine_Malformations,_and_Developmental_Delays 1 Severe_Growth_Retardation,_Spine_Malformations,_and_Developmental_Delays
Non-degenerative_Pontocerebellar_Hypoplasia 1 Non-degenerative_Pontocerebellar_Hypoplasia
RAC1-related_neurodevelopmental_disorder 1 RAC1-related_neurodevelopmental_disorder
Unspecified_Neurodevelopmental_Disorder 1 Unspecified_Neurodevelopmental_Disorder
Developmental_and_Speech_Delay,_Postnatal_Microcephaly,_and_Dysmorphic_Features 1 Developmental_and_Speech_Delay,_Postnatal_Microcephaly,_and_Dysmorphic_Features
Severe_Neurodevelopmental_Disease_with_Seizures 1 Severe_Neurodevelopmental_Disease_with_Seizures
Severe_Neonatal-,_Childhood-,_or_Later-Onset_Cardiomyopathy_Associated_with_Combined_Respiratory-Chain_Deficiencies 1 Severe_Neonatal-,_Childhood-,_or_Later-Onset_Cardiomyopathy_Associated_with_Combined_Respiratory-Chain_Deficiencies
Joubert_Syndrome_with_Cranio-facial_and_Skeletal_Defects 1 Joubert_Syndrome_with_Cranio-facial_and_Skeletal_Defects
Gorlin-Chaudhry-Moss_syndrome_(GCMS);__Syndrome_with_Hypertrichosis,_Progeroid_Appearance,_and_Mitochondrial_Dysfunction 1 Gorlin-Chaudhry-Moss_syndrome_(GCMS);__Syndrome_with_Hypertrichosis,_Progeroid_Appearance,_and_Mitochondrial_Dysfunction
Spondylometaphyseal_Dysplasia_with_Corner_Fractures 1 Spondylometaphyseal_Dysplasia_with_Corner_Fractures
Developmental_Delay,_Epilepsy,_Cerebellar_Atrophy,_and_Osteopenia 1 Developmental_Delay,_Epilepsy,_Cerebellar_Atrophy,_and_Osteopenia
Nephrotic_syndrome_with_primary_microcephaly 1 Nephrotic_syndrome_with_primary_microcephaly
Dienoyl-CoA_reductase_deficiency_with_hyperlysinemia 1 Dienoyl-CoA_reductase_deficiency_with_hyperlysinemia
Warburg_micro_syndrome_4 1 Warburg_micro_syndrome_4
Uridine-responsive_epileptic_encephalopathy 1 Uridine-responsive_epileptic_encephalopathy
SMC1A-related_Epileptic_Encephalopathy 1 SMC1A-related_Epileptic_Encephalopathy
Syndromic_neutropenia_with_Shwachman-Diamond-like_features 1 Syndromic_neutropenia_with_Shwachman-Diamond-like_features
Diamond-Blackfan_anemia_with_cleft_palate_and_abnormal_thumbs 1 Diamond-Blackfan_anemia_with_cleft_palate_and_abnormal_thumbs
IMAGe_Syndrome 1 IMAGe_Syndrome
Developmental_epileptic_encephalopathy 1 Developmental_epileptic_encephalopathy
SETD2-associated_Overgrowth_Syndrome_(Luscan-Lumish_syndrome) 1 SETD2-associated_Overgrowth_Syndrome_(Luscan-Lumish_syndrome)
MSI1-associated_Microcephaly 1 MSI1-associated_Microcephaly
Autism,_intellectual_disability,_basal_ganglia_dysfunction_and_epilepsy 1 Autism,_intellectual_disability,_basal_ganglia_dysfunction_and_epilepsy
Intellectual_disability,_encephalopathy,_impaired_GPI-anchor_maturation_ 1 Intellectual_disability,_encephalopathy,_impaired_GPI-anchor_maturation_
Coffin_Siris_like_disorder 1 Coffin_Siris_like_disorder
Macrocephaly_and_impaired_speech_and_language 1 Macrocephaly_and_impaired_speech_and_language
Intellectual_disability_with_facial_dysmorphism 1 Intellectual_disability_with_facial_dysmorphism
Craniofacial_with_neurodevelopment_disorders 1 Craniofacial_with_neurodevelopment_disorders
NOVA2-associated_neurodevelopmental_disorder 1 NOVA2-associated_neurodevelopmental_disorder
15q13.3_deletions_phenocopy 1 15q13.3_deletions_phenocopy
Stickler_syndrome 1 Stickler_syndrome
Disordered_cortical_neuronal_migration 1 Disordered_cortical_neuronal_migration
Severe_early-onset_encephalopathy_with_progressive_microcephaly, 1 Severe_early-onset_encephalopathy_with_progressive_microcephaly,
Severe_early-onset_encephalopathy_with_progressive_microcephaly 1 Severe_early-onset_encephalopathy_with_progressive_microcephaly
STAG2-related_developmental_delay_with_microcephaly_and_congenital_anomalies 1 STAG2-related_developmental_delay_with_microcephaly_and_congenital_anomalies
Brown-Vialetto-Van_Laere_syndrome_2 1 Brown-Vialetto-Van_Laere_syndrome_2
SNT1-related_cerebroretinal_microangiopathy_with_calcifications_and_cysts 1 SNT1-related_cerebroretinal_microangiopathy_with_calcifications_and_cysts
Recessive_gain_of_function_causing_increased_interferon_signalling 1 Recessive_gain_of_function_causing_increased_interferon_signalling
Pierpont_syndrome 1 Pierpont_syndrome
EPT1-related_complex_progressive_hereditary_spastic_paraplegia 1 EPT1-related_complex_progressive_hereditary_spastic_paraplegia
Tetra-amelia_with_lung_agenesis 1 Tetra-amelia_with_lung_agenesis
PRRX1-related_craniosynostosis 1 PRRX1-related_craniosynostosis
Capillary_malformation-arteriovenous_malformation_2 1 Capillary_malformation-arteriovenous_malformation_2
Bladder_exstrophy_plus 1 Bladder_exstrophy_plus
Hirschprung_disease_with_intestinal_pseudo-obstruction 1 Hirschprung_disease_with_intestinal_pseudo-obstruction
Megacystis-microcolon-intestinal_hypoperistalsis_syndrome 1 Megacystis-microcolon-intestinal_hypoperistalsis_syndrome
Stromme_syndrome 1 Stromme_syndrome
KMT2E-related_neurodevelopmental_disorder/O'Donnell-Luria-Rodan_syndrome 1 KMT2E-related_neurodevelopmental_disorder/O'Donnell-Luria-Rodan_syndrome
Microcephalic_primordial_dwarfism 1 Microcephalic_primordial_dwarfism
Chondrodysplasia_with_multiple_dislocations_and_amelogenesis_imperfecta 1 Chondrodysplasia_with_multiple_dislocations_and_amelogenesis_imperfecta
KLHL7-related_PERCHING_syndrome_(developmental_delay,_dysmorphism,_feeding_and_respiratory_difficulties,_hypotonia,_and_joint_contractures) 1 KLHL7-related_PERCHING_syndrome_(developmental_delay,_dysmorphism,_feeding_and_respiratory_difficulties,_hypotonia,_and_joint_contractures)
FHEIG_(facial_dysmorphism,_hypertrichosis,_epilepsy,_intellectual_disability/developmental_delay,_and_gingival_overgrowth) 1 FHEIG_(facial_dysmorphism,_hypertrichosis,_epilepsy,_intellectual_disability/developmental_delay,_and_gingival_overgrowth)
Primary_microcephaly,_cortical_malformation_and_epileptic_encephalopathy 1 Primary_microcephaly,_cortical_malformation_and_epileptic_encephalopathy
Neurodevelopment_disorder 1 Neurodevelopment_disorder
Fontaine_progeroid_syndrome 1 Fontaine_progeroid_syndrome
IMAGe_Syndrome_with_variable_immunodeficiency 1 IMAGe_Syndrome_with_variable_immunodeficiency
Epileptic_Encephalopathy_with_Contractures,_Macrocephaly,_and_Dyskinesia 1 Epileptic_Encephalopathy_with_Contractures,_Macrocephaly,_and_Dyskinesia
Mucociliary_Clearance_and_Laterality_Defects 1 Mucociliary_Clearance_and_Laterality_Defects
MIRAGE_-_myelodysplasia,_infection,_restriction_of_growth,_adrenal_hypoplasia,_genital_phenotypes,_enteropathy 1 MIRAGE_-_myelodysplasia,_infection,_restriction_of_growth,_adrenal_hypoplasia,_genital_phenotypes,_enteropathy
Neurodegenerative_disorder_exacerbated_by_febrile_illnesses 1 Neurodegenerative_disorder_exacerbated_by_febrile_illnesses
Cornelia_de_Lange_Syndrome_HDAC8_X-linked_dominant 1 Cornelia_de_Lange_Syndrome_HDAC8_X-linked_dominant
AGNATHIA-OTOCEPHALY_COMPLEX_biallelic 1 AGNATHIA-OTOCEPHALY_COMPLEX_biallelic
EPILEPTIC_ENCEPHALOPATHY_Gain-of-function 1 EPILEPTIC_ENCEPHALOPATHY_Gain-of-function
PHACTR1-associated_neurodevelopment_disorder 1 PHACTR1-associated_neurodevelopment_disorder
Neurometabolic_disorder_due_to_FARS2_deficiency 1 Neurometabolic_disorder_due_to_FARS2_deficiency
Cantu_syndrome 1 Cantu_syndrome
Congenital_Disorder_of_Glycosylation_with_Defective_Fucosylation 1 Congenital_Disorder_of_Glycosylation_with_Defective_Fucosylation
Mutations_in_ATP6V1E1_or_ATP6V1A_Cause_Autosomal_Recessive_Cutis_Laxa 1 Mutations_in_ATP6V1E1_or_ATP6V1A_Cause_Autosomal_Recessive_Cutis_Laxa
Autosomal_Recessive_Cutis_Laxa 1 Autosomal_Recessive_Cutis_Laxa
Neuro_immuno_skeletal_Dysplasia_Syndrome 1 Neuro_immuno_skeletal_Dysplasia_Syndrome
Autosomal_Recessive_Complicated_Spastic_Paraparesis_SPG23 1 Autosomal_Recessive_Complicated_Spastic_Paraparesis_SPG23
ATP5F1D_metabolic_disorder 1 ATP5F1D_metabolic_disorder
Hypomyelinating_Leukodystrophy 1 Hypomyelinating_Leukodystrophy
Sensorineural_Hearing_Loss_Hypoglycemia_and_Multiple_OXPHOS_Complex_Deficiencies 1 Sensorineural_Hearing_Loss_Hypoglycemia_and_Multiple_OXPHOS_Complex_Deficiencies
Neurodegeneration_in_Early_Childhood 1 Neurodegeneration_in_Early_Childhood
Cerebellar_Atrophy_with_Spinal_Motor_Neuronopathy 1 Cerebellar_Atrophy_with_Spinal_Motor_Neuronopathy
Severe_obesity_with_neurobehavioral_features 1 Severe_obesity_with_neurobehavioral_features
Pontocerebellar_hypoplasia_type_2D 1 Pontocerebellar_hypoplasia_type_2D
Progressive_cerebella-cerebral_atrophy_type_2 1 Progressive_cerebella-cerebral_atrophy_type_2
Infantile_ataxia_with_oculomotor_and_pyramidal_signs 1 Infantile_ataxia_with_oculomotor_and_pyramidal_signs
SCA14 1 SCA14
Intellectual_disability_and_iris_abnormalities 1 Intellectual_disability_and_iris_abnormalities
Transient_Neonatal_Hyperparathyroidism 1 Transient_Neonatal_Hyperparathyroidism
Recessive_Spondylocarpotarsal_Synostosis_Syndrome 1 Recessive_Spondylocarpotarsal_Synostosis_Syndrome
Defect_in_Cholesterol_Biosynthesis 1 Defect_in_Cholesterol_Biosynthesis
Intellectual_Disability_with_Seizures 1 Intellectual_Disability_with_Seizures
Developmental_Delay_Congenital_Anomalies_and_Dysmorphic_Features 1 Developmental_Delay_Congenital_Anomalies_and_Dysmorphic_Features
Enhanced_Growth_and_Connective_Tissue_Abnormalities 1 Enhanced_Growth_and_Connective_Tissue_Abnormalities
LNPK-associated_neurodevelopmental_disorder 1 LNPK-associated_neurodevelopmental_disorder
Variable_Neurodevelopmental_Disorder 1 Variable_Neurodevelopmental_Disorder
Neurological_Phenotypes 1 Neurological_Phenotypes
Syndromic_Neurodevelopmental_Disorder_with_Distinctive_Facial_Dysmorphism 1 Syndromic_Neurodevelopmental_Disorder_with_Distinctive_Facial_Dysmorphism
Early_Onset_Isolated_Mitochondrial_Complex_I_Deficiency 1 Early_Onset_Isolated_Mitochondrial_Complex_I_Deficiency
Neurological_Syndrome_Fetal_Akinesia_/Epileptic_Encephalopathy 1 Neurological_Syndrome_Fetal_Akinesia_/Epileptic_Encephalopathy
Facial_dysmorphism,_hypertrichosis,_epilepsy,_intellectual_disability/developmental_delay,_and_gingival_overgrowth 1 Facial_dysmorphism,_hypertrichosis,_epilepsy,_intellectual_disability/developmental_delay,_and_gingival_overgrowth
Saul_Wilson_Syndrome 1 Saul_Wilson_Syndrome
Craniofacial_Neurological_Cardiovascular_and_Skeletal_Features 1 Craniofacial_Neurological_Cardiovascular_and_Skeletal_Features
Woolly_Hair_Liver_Dysfunction_Dysmorphic_Features_and_Global_Developmental_Delay 1 Woolly_Hair_Liver_Dysfunction_Dysmorphic_Features_and_Global_Developmental_Delay
Renal_Hypomagnesemia_Refractory_Seizures_and_Intellectual_Disability 1 Renal_Hypomagnesemia_Refractory_Seizures_and_Intellectual_Disability
Neurodegeneration_with_Developmental_Delay_Ataxia_and_Axonal_Neuropathy 1 Neurodegeneration_with_Developmental_Delay_Ataxia_and_Axonal_Neuropathy
MACROCEPHALY,_ACQUIRED,_WITH_IMPAIRED_INTELLECTUAL_DEVELOPMENT 1 MACROCEPHALY,_ACQUIRED,_WITH_IMPAIRED_INTELLECTUAL_DEVELOPMENT
Autosomal_Recessive_Wiedemann_Rautenstrauch_Syndrome 1 Autosomal_Recessive_Wiedemann_Rautenstrauch_Syndrome
Motile_Cilia_Defects_and_Situs_Inversus 1 Motile_Cilia_Defects_and_Situs_Inversus
Defects_in_Neuronal_Migration_and_Axon_Guidance 1 Defects_in_Neuronal_Migration_and_Axon_Guidance
Intellectual_Disability_with_Speech_Delay_Microcephaly_Short_Stature_and_Aggressive_Behavior 1 Intellectual_Disability_with_Speech_Delay_Microcephaly_Short_Stature_and_Aggressive_Behavior
Neurodevelopmental_Delay_Congenital_Heart_Defects_and_Distinct_Facial_Dysmorphism 1 Neurodevelopmental_Delay_Congenital_Heart_Defects_and_Distinct_Facial_Dysmorphism
Nephronophthisis_Related_Ciliopathy 1 Nephronophthisis_Related_Ciliopathy
Baratela_Scott_Syndrome 1 Baratela_Scott_Syndrome
Syndromic_Intellectual_Disability_and_Developmental_Delay 1 Syndromic_Intellectual_Disability_and_Developmental_Delay
Severe_Neurodevelopmental_Syndrome_ 1 Severe_Neurodevelopmental_Syndrome_
Congenital_Microcephaly_Epileptic_Encephalopathy_Blindness_and_Failure_to_Thrive 1 Congenital_Microcephaly_Epileptic_Encephalopathy_Blindness_and_Failure_to_Thrive
Syndromic_Intellectual_Disability_Resembling_Other_PP2A_Related_Neurodevelopmental_Disorders 1 Syndromic_Intellectual_Disability_Resembling_Other_PP2A_Related_Neurodevelopmental_Disorders
Syndromic_Neurodevelopmental_Disorder 1 Syndromic_Neurodevelopmental_Disorder
Intellectual_Disability_with_Variable_Brain_Anomalies 1 Intellectual_Disability_with_Variable_Brain_Anomalies
Impaired_Cilia_Orientation_and_Mucociliary_Clearance 1 Impaired_Cilia_Orientation_and_Mucociliary_Clearance
Neurodevelopmental_Disease_Associated_with_Mild_Dysmorphism 1 Neurodevelopmental_Disease_Associated_with_Mild_Dysmorphism
Neurodevelopmental_Disorder_of_Hypusination 1 Neurodevelopmental_Disorder_of_Hypusination
Microcephaly_Developmental_Delay_and_Brittle_Hair_and_Nails 1 Microcephaly_Developmental_Delay_and_Brittle_Hair_and_Nails
Autism_and_Syndromic_Intellectual_Disability 1 Autism_and_Syndromic_Intellectual_Disability
congenital_hypotonia,_epilepsy,_developmental_delay,_digit_abnormalities 1 congenital_hypotonia,_epilepsy,_developmental_delay,_digit_abnormalities
MED13_-_Neurodevelopment_disorder 1 MED13_-_Neurodevelopment_disorder
NBEA_Neurodevelopment_disorder_with_seizures 1 NBEA_Neurodevelopment_disorder_with_seizures
Au-Kline_Syndrome 1 Au-Kline_Syndrome
DIETS-JONGMANS_SYNDROME 1 DIETS-JONGMANS_SYNDROME
EIF3F_related_developmental_disorder 1 EIF3F_related_developmental_disorder
MN1_C-terminal_truncation_syndrome_ 1 MN1_C-terminal_truncation_syndrome_
SETD1B_associated_intellectual_disability,_epilepsy_and_autism 1 SETD1B_associated_intellectual_disability,_epilepsy_and_autism
Congenital_megabladder 1 Congenital_megabladder
Inherited_GPI_Biosynthesis_Defect_with_an_Axonal_Neuropathy_and_Metabolic_Abnormality 1 Inherited_GPI_Biosynthesis_Defect_with_an_Axonal_Neuropathy_and_Metabolic_Abnormality
Intellectual_Disability,_Central_Nervous_System_anomalies_and_Seizures 1 Intellectual_Disability,_Central_Nervous_System_anomalies_and_Seizures
Intellectual_Disability,_Central_Nervous_System_anomalies_and_Scoliosis 1 Intellectual_Disability,_Central_Nervous_System_anomalies_and_Scoliosis
Non-photosensitive_trichothiodystrophy 1 Non-photosensitive_trichothiodystrophy
Acute_Febrile_Encephalopathy 1 Acute_Febrile_Encephalopathy
Infantile-Onset_Recurrent_Acute_Liver_Failure_and_Skeletal_Abnormalities 1 Infantile-Onset_Recurrent_Acute_Liver_Failure_and_Skeletal_Abnormalities
NEURODEVELOPMENTAL_DISORDER_WITH_MICROCEPHALY_AND_STRUCTURAL_BRAIN_ANOMALIES 1 NEURODEVELOPMENTAL_DISORDER_WITH_MICROCEPHALY_AND_STRUCTURAL_BRAIN_ANOMALIES
BRAIN_ABNORMALITIES,_NEURODEGENERATION,_AND_DYSOSTEOSCLEROSIS 1 BRAIN_ABNORMALITIES,_NEURODEGENERATION,_AND_DYSOSTEOSCLEROSIS
KEIPERT_SYNDROME 1 KEIPERT_SYNDROME
NEURODEVELOPMENTAL_DISORDER_WITH_SEIZURES_AND_NONEPILEPTIC_HYPERKINETIC_MOVEMENTS 1 NEURODEVELOPMENTAL_DISORDER_WITH_SEIZURES_AND_NONEPILEPTIC_HYPERKINETIC_MOVEMENTS
HOLOPROSENCEPHALY_12_WITH_OR_WITHOUT_PANCREATIC_AGENESIS 1 HOLOPROSENCEPHALY_12_WITH_OR_WITHOUT_PANCREATIC_AGENESIS
VAN_ESCH-O'DRISCOLL_SYNDROME 1 VAN_ESCH-O'DRISCOLL_SYNDROME
Congenital_Lower_Urinary_Tract_Obstruction 1 Congenital_Lower_Urinary_Tract_Obstruction
INTELLECTUAL_DEVELOPMENTAL_DISORDER_WITH_SEVERE_SPEECH_AND_AMBULATION_DEFECTS 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER_WITH_SEVERE_SPEECH_AND_AMBULATION_DEFECTS
Nuclear_Envelopathy_with_Early_Progeroid_Appearance 1 Nuclear_Envelopathy_with_Early_Progeroid_Appearance
Ciliopathy-related_syndromic_intellectual_disability 1 Ciliopathy-related_syndromic_intellectual_disability
MULTIPLE_JOINT_DISLOCATIONS,_SHORT_STATURE,_AND_CRANIOFACIAL_DYSMORPHISM_WITH_OR_WITHOUT_CONGENITAL_HEART_DEFECTS 1 MULTIPLE_JOINT_DISLOCATIONS,_SHORT_STATURE,_AND_CRANIOFACIAL_DYSMORPHISM_WITH_OR_WITHOUT_CONGENITAL_HEART_DEFECTS
Bicuspid_Aortic_Valve_and_Aortic_Aneurysm 1 Bicuspid_Aortic_Valve_and_Aortic_Aneurysm
Malate-Aspartate_Shuttle-Related_Encephalopathy 1 Malate-Aspartate_Shuttle-Related_Encephalopathy
EPISODIC_PAIN_SYNDROME,_FAMILIAL 1 EPISODIC_PAIN_SYNDROME,_FAMILIAL
HENNEKAM_LYMPHANGIECTASIA-LYMPHEDEMA_SYNDROME_2 1 HENNEKAM_LYMPHANGIECTASIA-LYMPHEDEMA_SYNDROME_2
ACUTE_LIVER_FAILURE_(ALF)_IN_INFANCY_AND_CHILDHOOD;_SHORT_STATURE,_OPTIC_NERVE_ATROPHY,_AND_PELGER-HUET_ANOMALY 1 ACUTE_LIVER_FAILURE_(ALF)_IN_INFANCY_AND_CHILDHOOD;_SHORT_STATURE,_OPTIC_NERVE_ATROPHY,_AND_PELGER-HUET_ANOMALY
VAN_MALDERGEM_SYNDROME 1 VAN_MALDERGEM_SYNDROME
Primary_Microcephaly_or_macrocephaly_with_developmental_delay 1 Primary_Microcephaly_or_macrocephaly_with_developmental_delay
Pulmonary_artery_and_lung_hypoplasia,_agonadism,_omphalocele,_diaphragmatic_defects,_hypoplastic_left_heart_and_scimitar_syndrome 1 Pulmonary_artery_and_lung_hypoplasia,_agonadism,_omphalocele,_diaphragmatic_defects,_hypoplastic_left_heart_and_scimitar_syndrome
LINGO1_related_intellectual_disability_with_microcephaly,_speech_and_motor_delay 1 LINGO1_related_intellectual_disability_with_microcephaly,_speech_and_motor_delay
Cerebello-Oculo-Facio-Genital_syndrome 1 Cerebello-Oculo-Facio-Genital_syndrome
KCNA4-related_abnormal_striatum,_congenital_cataract_and_intellectual_disability 1 KCNA4-related_abnormal_striatum,_congenital_cataract_and_intellectual_disability
Developmental_and_infantile_epileptic_encephalopathy 1 Developmental_and_infantile_epileptic_encephalopathy
Severe_microcephaly_and_short_stature 1 Severe_microcephaly_and_short_stature
Multiple_malformations_of_neural_tube,_ear,_genitourinary_and_gastrointestinal_systems 1 Multiple_malformations_of_neural_tube,_ear,_genitourinary_and_gastrointestinal_systems
Developmental_Disorder_with_Microcephaly_and_Congenital_Arthrogryposis 1 Developmental_Disorder_with_Microcephaly_and_Congenital_Arthrogryposis
Lissencephaly,_Subcortical_Heterotopia,_and_Global_Developmental_Delay 1 Lissencephaly,_Subcortical_Heterotopia,_and_Global_Developmental_Delay
Syndromic_Neurodevelopmental_Disorder_with_Corpus_Collosum,_Axon,_Cardiac,_Ocular,_and_Genital_Defects 1 Syndromic_Neurodevelopmental_Disorder_with_Corpus_Collosum,_Axon,_Cardiac,_Ocular,_and_Genital_Defects
LEUKODYSTROPHY,_HYPOMYELINATING,_18 1 LEUKODYSTROPHY,_HYPOMYELINATING,_18
NEURODEVELOPMENTAL_DISORDER_WITH_OR_WITHOUT_SEIZURES_AND_GAIT_ABNORMALITIES 1 NEURODEVELOPMENTAL_DISORDER_WITH_OR_WITHOUT_SEIZURES_AND_GAIT_ABNORMALITIES
GALLOWAY-MOWAT_SYNDROME_8 1 GALLOWAY-MOWAT_SYNDROME_8
GALLOWAY-MOWAT_SYNDROME_7 1 GALLOWAY-MOWAT_SYNDROME_7
GALLOWAY-MOWAT_SYNDROME_4 1 GALLOWAY-MOWAT_SYNDROME_4
GALLOWAY-MOWAT_SYNDROME_6 1 GALLOWAY-MOWAT_SYNDROME_6
GALLOWAY-MOWAT_SYNDROME_5 1 GALLOWAY-MOWAT_SYNDROME_5
GALLOWAY-MOWAT_SYNDROME_2 1 GALLOWAY-MOWAT_SYNDROME_2
MITOCHONDRIAL_SHORT-CHAIN_ENOYL-CoA_HYDRATASE_1_DEFICIENCY 1 MITOCHONDRIAL_SHORT-CHAIN_ENOYL-CoA_HYDRATASE_1_DEFICIENCY
Desbuquois_dysplasia_1 1 Desbuquois_dysplasia_1
GELEOPHYSIC_DYSPLASIA_1 1 GELEOPHYSIC_DYSPLASIA_1
NCOR1-related_developmental_disorder 1 NCOR1-related_developmental_disorder
Marfanoid_Habitus_and_Cognitive_Impairment 1 Marfanoid_Habitus_and_Cognitive_Impairment
Transient_Hypomyelination_during_Infancy 1 Transient_Hypomyelination_during_Infancy
Intellectual_Disability,_Developmental_Delay,_and_Short_Stature 1 Intellectual_Disability,_Developmental_Delay,_and_Short_Stature
Motile_Ciliopathy_with_Hydrocephalus_and_Randomization_of_Left/Right_Body_Asymmetry 1 Motile_Ciliopathy_with_Hydrocephalus_and_Randomization_of_Left/Right_Body_Asymmetry
MEDNIK-like_Syndrome 1 MEDNIK-like_Syndrome
Spondyloepimetaphyseal_Dysplasia_with_Severe_Short_Stature 1 Spondyloepimetaphyseal_Dysplasia_with_Severe_Short_Stature
Microcephaly_and_Lissencephaly_Spectrum_Disorders 1 Microcephaly_and_Lissencephaly_Spectrum_Disorders
Developmental_delay,_hypotonia,_and_autistic_features 1 Developmental_delay,_hypotonia,_and_autistic_features
TASP1-related_neurodevelopmental_disorder 1 TASP1-related_neurodevelopmental_disorder
MICROCEPHALY,_FACIAL_DYSMORPHISM,_RENAL_AGENESIS,_AND_AMBIGUOUS_GENITALIA_SYNDROME 1 MICROCEPHALY,_FACIAL_DYSMORPHISM,_RENAL_AGENESIS,_AND_AMBIGUOUS_GENITALIA_SYNDROME
INTELLECTUAL_DEVELOPMENTAL_DISORDER,_X-LINKED_102 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER,_X-LINKED_102
QUESTION_MARK_EARS,_ISOLATED 1 QUESTION_MARK_EARS,_ISOLATED
RARB-related_microphthalmia_syndromic 1 RARB-related_microphthalmia_syndromic
INTELLECTUAL_DEVELOPMENTAL_DISORDER,_X-LINKED_99;_MRX99 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER,_X-LINKED_99;_MRX99
AICARDI-GOUTIERES_SYNDROME_ASSOCIATED_WITH_A_TYPE_I_INTERFERON_SIGNATURE 1 AICARDI-GOUTIERES_SYNDROME_ASSOCIATED_WITH_A_TYPE_I_INTERFERON_SIGNATURE
CATARACT_17,_MULTIPLE_TYPES 1 CATARACT_17,_MULTIPLE_TYPES
Global_Developmental_Delay,_Hypotonia,_Scoliosis,_and_Cerebellar_Atrophy 1 Global_Developmental_Delay,_Hypotonia,_Scoliosis,_and_Cerebellar_Atrophy
INSULIN-LIKE_GROWTH_FACTOR_I,_RESISTANCE_TO 1 INSULIN-LIKE_GROWTH_FACTOR_I,_RESISTANCE_TO
Gillespie_Syndrome 1 Gillespie_Syndrome
MICROPHTHALMIA,_SYNDROMIC_14 1 MICROPHTHALMIA,_SYNDROMIC_14
ARTHROGRYPOSIS_MULTIPLEX_CONGENITA_AND_INTELLECTUAL_DISABILITY 1 ARTHROGRYPOSIS_MULTIPLEX_CONGENITA_AND_INTELLECTUAL_DISABILITY
AGO1-related_developmental_disorder_(monoallelic) 1 AGO1-related_developmental_disorder_(monoallelic)
DNM1L-related_developmental_disorder_(monoallelic) 1 DNM1L-related_developmental_disorder_(monoallelic)
BCL11B-related_neurodevelopmental_disorder 1 BCL11B-related_neurodevelopmental_disorder
CSNK2B-related_developmental_disorder_(monoallelic) 1 CSNK2B-related_developmental_disorder_(monoallelic)
CTBP1-related_developmental_disorder_(monoallelic) 1 CTBP1-related_developmental_disorder_(monoallelic)
KCND3-related_developmental_disorder_(monoallelic) 1 KCND3-related_developmental_disorder_(monoallelic)
HK1-related_developmental_disorder_(monoallelic) 1 HK1-related_developmental_disorder_(monoallelic)
SPAST-related_developmental_disorder_(monoallelic) 1 SPAST-related_developmental_disorder_(monoallelic)
MEIS2-related_developmental_disorder_(monoallelic) 1 MEIS2-related_developmental_disorder_(monoallelic)
NR4A2-related_developmental_disorder_(monoallelic) 1 NR4A2-related_developmental_disorder_(monoallelic)
NSD2-related_developmental_disorder_(monoallelic) 1 NSD2-related_developmental_disorder_(monoallelic)
OGT-related_developmental_disorder_(hemizygous) 1 OGT-related_developmental_disorder_(hemizygous)
OGT-related_developmental_disorder_(X-linked_dominant) 1 OGT-related_developmental_disorder_(X-linked_dominant)
PBX1-related_developmental_disorder_(monoallelic) 1 PBX1-related_developmental_disorder_(monoallelic)
PRPF8-related_developmental_disorder_(monoallelic) 1 PRPF8-related_developmental_disorder_(monoallelic)
AP2S1-related_developmental_disorder_(monoallelic) 1 AP2S1-related_developmental_disorder_(monoallelic)
SYNCRIP-related_developmental_disorder_(monoallelic) 1 SYNCRIP-related_developmental_disorder_(monoallelic)
TCF7L2-related_developmental_disorder_(monoallelic) 1 TCF7L2-related_developmental_disorder_(monoallelic)
VCP-related_developmental_disorder_(monoallelic) 1 VCP-related_developmental_disorder_(monoallelic)
ZNF292-related_developmental_disorder_(monoallelic) 1 ZNF292-related_developmental_disorder_(monoallelic)
DDX23-related_developmental_disorder_(monoallelic) 1 DDX23-related_developmental_disorder_(monoallelic)
ARHGAP35-related_developmental_disorder_(monoallelic) 1 ARHGAP35-related_developmental_disorder_(monoallelic)
DPYSL5-related_developmental_disorder_(monoallelic) 1 DPYSL5-related_developmental_disorder_(monoallelic)
FBXW7-related_developmental_disorder_(monoallelic) 1 FBXW7-related_developmental_disorder_(monoallelic)
GNB2-related_developmental_disorder_(monoallelic) 1 GNB2-related_developmental_disorder_(monoallelic)
EEF2-related_developmental_disorder_(monoallelic) 1 EEF2-related_developmental_disorder_(monoallelic)
MAST1-related_developmental_disorder_(monoallelic) 1 MAST1-related_developmental_disorder_(monoallelic)
GIGYF1-related_developmental_disorder_(monoallelic) 1 GIGYF1-related_developmental_disorder_(monoallelic)
RAB14-related_developmental_disorder_(monoallelic) 1 RAB14-related_developmental_disorder_(monoallelic)
GRIA2-related_developmental_disorder_(monoallelic) 1 GRIA2-related_developmental_disorder_(monoallelic)
HIST1H2AC-related_developmental_disorder_(monoallelic) 1 HIST1H2AC-related_developmental_disorder_(monoallelic)
HNRNPD-related_developmental_disorder_(monoallelic) 1 HNRNPD-related_developmental_disorder_(monoallelic)
U2AF2-related_neurodevelopmental_disorder 1 U2AF2-related_neurodevelopmental_disorder
ADCY5-related_developmental_disorder_(monoallelic) 1 ADCY5-related_developmental_disorder_(monoallelic)
MIB1-related_developmental_disorder_(monoallelic) 1 MIB1-related_developmental_disorder_(monoallelic)
MSL2-related_developmental_disorder_(monoallelic) 1 MSL2-related_developmental_disorder_(monoallelic)
ODC1-related_neurodevelopmental_disorder 1 ODC1-related_neurodevelopmental_disorder
PCBP2-related_developmental_disorder_(monoallelic) 1 PCBP2-related_developmental_disorder_(monoallelic)
ATP6V0A1-related_developmental_disorder_(monoallelic) 1 ATP6V0A1-related_developmental_disorder_(monoallelic)
KCNK3-associated_developmental_delay_with_sleep_apnea_ 1 KCNK3-associated_developmental_delay_with_sleep_apnea_
SATB1-related_developmental_disorder_(monoallelic) 1 SATB1-related_developmental_disorder_(monoallelic)
SPEN-related_developmental_disorder_(monoallelic) 1 SPEN-related_developmental_disorder_(monoallelic)
SPTBN1-related_developmental_disorder_(monoallelic) 1 SPTBN1-related_developmental_disorder_(monoallelic)
SRRM2-related_developmental_disorder_(monoallelic) 1 SRRM2-related_developmental_disorder_(monoallelic)
SRSF1-related_developmental_disorder_(monoallelic) 1 SRSF1-related_developmental_disorder_(monoallelic)
PSMC5-related_developmental_disorder_(monoallelic) 1 PSMC5-related_developmental_disorder_(monoallelic)
TRPM3-related_developmental_disorder_(monoallelic) 1 TRPM3-related_developmental_disorder_(monoallelic)
UPF1-related_developmental_disorder_(monoallelic) 1 UPF1-related_developmental_disorder_(monoallelic)
ZFHX3-related_neurodevelopmental_disorder 1 ZFHX3-related_neurodevelopmental_disorder
ZFHX4-related_developmental_disorder_(monoallelic) 1 ZFHX4-related_developmental_disorder_(monoallelic)
ZMYM2-related_developmental_disorder_(monoallelic) 1 ZMYM2-related_developmental_disorder_(monoallelic)
ZNF148-related_neurodevelopmental_disorder 1 ZNF148-related_neurodevelopmental_disorder
ARHGEF9-related_developmental_disorder_(X-linked_dominant) 1 ARHGEF9-related_developmental_disorder_(X-linked_dominant)
CACNA1G-related_developmental_disorder_(monoallelic) 1 CACNA1G-related_developmental_disorder_(monoallelic)
CUL3-related_developmental_disorder_(monoallelic) 1 CUL3-related_developmental_disorder_(monoallelic)
KDM6B-related_developmental_disorder_(monoallelic) 1 KDM6B-related_developmental_disorder_(monoallelic)
USP7-related_developmental_disorder_(monoallelic) 1 USP7-related_developmental_disorder_(monoallelic)
Autosomal-Recessive_Neurological_Disease_with_Cerebellar_Atrophy_and_Lysosomal_Dysfunction 1 Autosomal-Recessive_Neurological_Disease_with_Cerebellar_Atrophy_and_Lysosomal_Dysfunction
CHRNA3-related_congenital_anomalies_of_the_kidney_and_urinary_tract 1 CHRNA3-related_congenital_anomalies_of_the_kidney_and_urinary_tract
Posterior_Amelia_with_Pelvic_and_Pulmonary_Hypoplasia 1 Posterior_Amelia_with_Pelvic_and_Pulmonary_Hypoplasia
Intellectual_Disability_with_or_without_Epileptic_Encephalopathy,_activating 1 Intellectual_Disability_with_or_without_Epileptic_Encephalopathy,_activating
GRID2-related_cerebellar_ataxia,_biallelic 1 GRID2-related_cerebellar_ataxia,_biallelic
GRID2-related_cerebellar_ataxia,_monoallelic 1 GRID2-related_cerebellar_ataxia,_monoallelic
NDNF-related_Congenital_Hypogonadotrophic_Hypogonadism 1 NDNF-related_Congenital_Hypogonadotrophic_Hypogonadism
NDUFAF8-related_Leigh_Syndrome 1 NDUFAF8-related_Leigh_Syndrome
PPP1R12A-related_Holoprosencephaly_Spectrum_and_Urogenital_Malformations 1 PPP1R12A-related_Holoprosencephaly_Spectrum_and_Urogenital_Malformations
NADSYN1-related_Congenital_NAD_Deficiency_Disorder 1 NADSYN1-related_Congenital_NAD_Deficiency_Disorder
Steel_Syndrome 1 Steel_Syndrome
Shukla-Vernon_Syndrome 1 Shukla-Vernon_Syndrome
ANK2-related_neurodevelopmental_disorder 1 ANK2-related_neurodevelopmental_disorder
Mitochondrial_Complex_III_Deficiency,_Cardiomyopathy,_and_Alopecia_Totalis 1 Mitochondrial_Complex_III_Deficiency,_Cardiomyopathy,_and_Alopecia_Totalis
Endosteal_Hyperostosis_and_Oligodontia 1 Endosteal_Hyperostosis_and_Oligodontia
UGP2_Epileptic_Encephalopathy 1 UGP2_Epileptic_Encephalopathy
TTC12-related_Primary_Ciliary_Dyskinesia 1 TTC12-related_Primary_Ciliary_Dyskinesia
TET3_DNA_Demethylation_Disorder_biallelic 1 TET3_DNA_Demethylation_Disorder_biallelic
TET3_DNA_Demethylation_Disorder_monoallelic 1 TET3_DNA_Demethylation_Disorder_monoallelic
RALGAPA1-related_neurodevelopmental_disorder 1 RALGAPA1-related_neurodevelopmental_disorder
TKFC-related_Cataracts_and_Multisystem_Disease 1 TKFC-related_Cataracts_and_Multisystem_Disease
CDC42BPB-related_Neurodevelopmental_Disorder 1 CDC42BPB-related_Neurodevelopmental_Disorder
CDC42-related_Neurodevelopmental_Disorder 1 CDC42-related_Neurodevelopmental_Disorder
RALA-related_Neurodevelopmental_Syndrome 1 RALA-related_Neurodevelopmental_Syndrome
SLC5A6-related_Neurodevelopmental_Disorder 1 SLC5A6-related_Neurodevelopmental_Disorder
SPOP-related_Neurodevelopmental_Disorder,_gain_of_function 1 SPOP-related_Neurodevelopmental_Disorder,_gain_of_function
SPOP-related_Neurodevelopmental_Disorder,_dominant_negative 1 SPOP-related_Neurodevelopmental_Disorder,_dominant_negative
METTL23-related_Intellectual_Disability 1 METTL23-related_Intellectual_Disability
RARS1_related_hypomyelinating_leukodystrophy 1 RARS1_related_hypomyelinating_leukodystrophy
TMEM106B_related_hypomyelinating_leukodystrophy 1 TMEM106B_related_hypomyelinating_leukodystrophy
POLR1C-related_Leukodystrophy 1 POLR1C-related_Leukodystrophy
SLC25A1-related_Neurometabolic_Disorder 1 SLC25A1-related_Neurometabolic_Disorder
ADARB1-associated_Microcephaly,_Intellectual_Disability,_and_Seizures 1 ADARB1-associated_Microcephaly,_Intellectual_Disability,_and_Seizures
PIGK-associated_Neurodevelopmental_Syndrome 1 PIGK-associated_Neurodevelopmental_Syndrome
NRROS-related_Infantile-Onset_Neurodegeneration_with_Intracranial_Calcification 1 NRROS-related_Infantile-Onset_Neurodegeneration_with_Intracranial_Calcification
EIF2AK1-associated_Neurodevelopmental_Syndrome 1 EIF2AK1-associated_Neurodevelopmental_Syndrome
EIF2AK2-associated_Developmental_Delay,_Leukoencephalopathy,_and_Neurologic_Decompensation 1 EIF2AK2-associated_Developmental_Delay,_Leukoencephalopathy,_and_Neurologic_Decompensation
INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AUTOSOMAL_RECESSIVE_70 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AUTOSOMAL_RECESSIVE_70
OCLN-associated_Band-like_Calcification_with_Simplified_Gyration_and_Polymicrogyria 1 OCLN-associated_Band-like_Calcification_with_Simplified_Gyration_and_Polymicrogyria
KATNB1-_associated_COMPLEX_CEREBRAL_MALFORMATIONS 1 KATNB1-_associated_COMPLEX_CEREBRAL_MALFORMATIONS
GLYCOSYLPHOSPHATIDYLINOSITOL_BIOSYNTHESIS_DEFECT_17 1 GLYCOSYLPHOSPHATIDYLINOSITOL_BIOSYNTHESIS_DEFECT_17
MYOPATHY,_LACTIC_ACIDOSIS,_AND_SIDEROBLASTIC_ANEMIA_1 1 MYOPATHY,_LACTIC_ACIDOSIS,_AND_SIDEROBLASTIC_ANEMIA_1
MYOPATHY,_LACTIC_ACIDOSIS,_AND_SIDEROBLASTIC_ANEMIA_2 1 MYOPATHY,_LACTIC_ACIDOSIS,_AND_SIDEROBLASTIC_ANEMIA_2
CCDC32-associated_neurodevelopmental_syndrome 1 CCDC32-associated_neurodevelopmental_syndrome
KMT2D_multiple_malformations_disorder 1 KMT2D_multiple_malformations_disorder
Basel-Vanagaite-Smirin-Yosef_Syndrome 1 Basel-Vanagaite-Smirin-Yosef_Syndrome
ARNT2-associated_hypopituitarism,_post-natal_microcephaly,_visual_and_renal_anomalies 1 ARNT2-associated_hypopituitarism,_post-natal_microcephaly,_visual_and_renal_anomalies
SIAH1-associated_neurodevelopmental_disorder 1 SIAH1-associated_neurodevelopmental_disorder
TTC5-associated_neurodevelopmental_disorder 1 TTC5-associated_neurodevelopmental_disorder
CDK19-associated_Intellectual_Disability_and_Epileptic_Encephalopathy 1 CDK19-associated_Intellectual_Disability_and_Epileptic_Encephalopathy
CONGENITAL_DISORDER_OF_GLYCOSYLATION,_TYPE_IId 1 CONGENITAL_DISORDER_OF_GLYCOSYLATION,_TYPE_IId
MAU2_neurodevelopmental_disorder 1 MAU2_neurodevelopmental_disorder
JABERI-ELAHI_SYNDROME 1 JABERI-ELAHI_SYNDROME
TRIM8-related_neurodevelopmental_disorder 1 TRIM8-related_neurodevelopmental_disorder
SMO-related_developmental_disorder 1 SMO-related_developmental_disorder
SOX6-related_neurodevelopmental_syndrome 1 SOX6-related_neurodevelopmental_syndrome
RIMS2_Syndromic_Congenital_Cone-Rod_Synaptic_Disease 1 RIMS2_Syndromic_Congenital_Cone-Rod_Synaptic_Disease
KIF3B-related_ciliopathy 1 KIF3B-related_ciliopathy
HNRNPH1-related_neurodevelopmental_disorder 1 HNRNPH1-related_neurodevelopmental_disorder
MYOPATHY,_CONGENITAL,_WITH_FAST-TWITCH_(TYPE_II)_FIBER_ATROPHY 1 MYOPATHY,_CONGENITAL,_WITH_FAST-TWITCH_(TYPE_II)_FIBER_ATROPHY
NEUROPATHY,_CONGENITAL_HYPOMYELINATING,_2 1 NEUROPATHY,_CONGENITAL_HYPOMYELINATING,_2
ABAT-related_GABA-transaminase_Deficiency 1 ABAT-related_GABA-transaminase_Deficiency
PERIVENTRICULAR_NODULAR_HETEROTOPIA_8 1 PERIVENTRICULAR_NODULAR_HETEROTOPIA_8
EPILEPTIC_ENCEPHALOPATHY,_INFANTILE_OR_EARLY_CHILDHOOD,_3 1 EPILEPTIC_ENCEPHALOPATHY,_INFANTILE_OR_EARLY_CHILDHOOD,_3
INTELLECTUAL_DEVELOPMENTAL_DISORDER_59 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER_59
HYPOPARATHYROIDISM,_SENSORINEURAL_DEAFNESS,_AND_RENAL_DISEASE 1 HYPOPARATHYROIDISM,_SENSORINEURAL_DEAFNESS,_AND_RENAL_DISEASE
KLF7-related_developmental_disorder 1 KLF7-related_developmental_disorder
NOONAN_SYNDROME_10 1 NOONAN_SYNDROME_10
NEURODEGENERATION,_CHILDHOOD-ONSET,_WITH_CEREBELLAR_ATROPHY 1 NEURODEGENERATION,_CHILDHOOD-ONSET,_WITH_CEREBELLAR_ATROPHY
GLOBAL_DEVELOPMENTAL_DELAY_WITH_OR_WITHOUT_IMPAIRED_INTELLECTUAL_DEVELOPMENT 1 GLOBAL_DEVELOPMENTAL_DELAY_WITH_OR_WITHOUT_IMPAIRED_INTELLECTUAL_DEVELOPMENT
EIF2B4-RELATED_LEUKOENCEPHALOPATHY_WITH_VANISHING_WHITE_MATTER 1 EIF2B4-RELATED_LEUKOENCEPHALOPATHY_WITH_VANISHING_WHITE_MATTER
EIF2B5-RELATED_LEUKOENCEPHALOPATHY_WITH_VANISHING_WHITE_MATTER 1 EIF2B5-RELATED_LEUKOENCEPHALOPATHY_WITH_VANISHING_WHITE_MATTER
DIARRHEA_5,_WITH_TUFTING_ENTEROPATHY,_CONGENITAL 1 DIARRHEA_5,_WITH_TUFTING_ENTEROPATHY,_CONGENITAL
NEURODEVELOPMENTAL_DISORDER_WITH_MICROCEPHALY,_CATARACTS,_AND_RENAL_ABNORMALITIES 1 NEURODEVELOPMENTAL_DISORDER_WITH_MICROCEPHALY,_CATARACTS,_AND_RENAL_ABNORMALITIES
MACROCEPHALY,_DYSMORPHIC_FACIES,_AND_PSYCHOMOTOR_RETARDATION 1 MACROCEPHALY,_DYSMORPHIC_FACIES,_AND_PSYCHOMOTOR_RETARDATION
NEMALINE_MYOPATHY_10 1 NEMALINE_MYOPATHY_10
ENCEPHALOPATHY_DUE_TO_DEFECTIVE_MITOCHONDRIAL_AND_PEROXISOMAL_FISSION_2 1 ENCEPHALOPATHY_DUE_TO_DEFECTIVE_MITOCHONDRIAL_AND_PEROXISOMAL_FISSION_2
NOONAN_SYNDROME_11 1 NOONAN_SYNDROME_11
MYBPC1-related_arthrogryposis_and_myopathy 1 MYBPC1-related_arthrogryposis_and_myopathy
LETHAL_CONGENITAL_CONTRACTURE_SYNDROME_4 1 LETHAL_CONGENITAL_CONTRACTURE_SYNDROME_4
KLIPPEL-FEIL_SYNDROME_4,_AUTOSOMAL_RECESSIVE,_WITH_NEMALINE_MYOPATHY_AND_FACIAL_DYSMORPHISM 1 KLIPPEL-FEIL_SYNDROME_4,_AUTOSOMAL_RECESSIVE,_WITH_NEMALINE_MYOPATHY_AND_FACIAL_DYSMORPHISM
DIENCEPHALIC-MESENCEPHALIC_JUNCTION_DYSPLASIA_SYNDROME_1 1 DIENCEPHALIC-MESENCEPHALIC_JUNCTION_DYSPLASIA_SYNDROME_1
JOUBERT_SYNDROME_33 1 JOUBERT_SYNDROME_33
PNPLA6-related_Disorder 1 PNPLA6-related_Disorder
NEUROLOGIC,_ENDOCRINE,_AND_PANCREATIC_DISEASE,_MULTISYSTEM,_INFANTILE-ONSET 1 NEUROLOGIC,_ENDOCRINE,_AND_PANCREATIC_DISEASE,_MULTISYSTEM,_INFANTILE-ONSET
INTELLECTUAL_DEVELOPMENTAL_DISORDER,_X-LINKED,_SYNDROMIC,_35 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER,_X-LINKED,_SYNDROMIC,_35
DIAMOND-BLACKFAN_ANEMIA_11 1 DIAMOND-BLACKFAN_ANEMIA_11
DIAMOND-BLACKFAN_ANEMIA_10 1 DIAMOND-BLACKFAN_ANEMIA_10
SELENON-related_myopathy 1 SELENON-related_myopathy
NEURODEVELOPMENTAL_DISORDER_WITH_HYPOTONIA,_NEUROPATHY,_AND_DEAFNESS 1 NEURODEVELOPMENTAL_DISORDER_WITH_HYPOTONIA,_NEUROPATHY,_AND_DEAFNESS
INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AUTOSOMAL_RECESSIVE_68 1 INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AUTOSOMAL_RECESSIVE_68
WOLFRAM_SYNDROME_1 1 WOLFRAM_SYNDROME_1
Wolfram-like_syndrome,_autosomal_dominant 1 Wolfram-like_syndrome,_autosomal_dominant
ZNF142-related_neurodevelopmental_disorder 1 ZNF142-related_neurodevelopmental_disorder
CNOT1-related_neurodevelopmental_disorder 1 CNOT1-related_neurodevelopmental_disorder
SUPT16H-related_neurodevelopmental_disorder 1 SUPT16H-related_neurodevelopmental_disorder
KOSAKI_OVERGROWTH_SYNDROME 1 KOSAKI_OVERGROWTH_SYNDROME
TBC1D2B-related_neurodevelopmental_disorder 1 TBC1D2B-related_neurodevelopmental_disorder
TFE3-related_intellectual_disability_with_pigmentary_mosaicism_and_coarse_features 1 TFE3-related_intellectual_disability_with_pigmentary_mosaicism_and_coarse_features
DSP-related_developmental_disorder 1 DSP-related_developmental_disorder
MFN2-related_developmental_disorder 1 MFN2-related_developmental_disorder
MMGT1-related_developmental_disorder 1 MMGT1-related_developmental_disorder
PRKAR1B-related_developmental_disorder 1 PRKAR1B-related_developmental_disorder
MIGRAINE,_FAMILIAL_HEMIPLEGIC,_ATP1A2-related 1 MIGRAINE,_FAMILIAL_HEMIPLEGIC,_ATP1A2-related
TANC2-related_neurodevelopmental_and_psychiatric_disorders 1 TANC2-related_neurodevelopmental_and_psychiatric_disorders
CHD1-related_neurodevelopment_disorder 1 CHD1-related_neurodevelopment_disorder
RBFOX1-related_neurodevelopmental_disorder 1 RBFOX1-related_neurodevelopmental_disorder
CNNM2-related_neurodevelopmental_disorder_with_hypomagnesemia 1 CNNM2-related_neurodevelopmental_disorder_with_hypomagnesemia
CNNM2-related_neurodevelopmental_disorder_with_hypomagnesemia;_autosomal_recessive_form 1 CNNM2-related_neurodevelopmental_disorder_with_hypomagnesemia;_autosomal_recessive_form
CTNND2-related_neurodevelopmental_disorder 1 CTNND2-related_neurodevelopmental_disorder
FGF14-related_episodic_ataxia 1 FGF14-related_episodic_ataxia
ZNF407-related_Neurodevelopmental_Disorder 1 ZNF407-related_Neurodevelopmental_Disorder
TOGARAM1-related_ciliopathy 1 TOGARAM1-related_ciliopathy
MADD-related_developmental_disorder 1 MADD-related_developmental_disorder
NARS1-related_Neurodevelopmental_Disorder 1 NARS1-related_Neurodevelopmental_Disorder
NARS1-related_Neurodevelopmental_Disorder_ 1 NARS1-related_Neurodevelopmental_Disorder_
MYLPF_arthrogryposis_(biallelic) 1 MYLPF_arthrogryposis_(biallelic)
MYLPF_arthrogryposis_(monoallelic) 1 MYLPF_arthrogryposis_(monoallelic)
HPDL_Neurodegenerative_Disease 1 HPDL_Neurodegenerative_Disease
Renal_hypodysplasia/aplasia_3 1 Renal_hypodysplasia/aplasia_3
NDUFA8-related_developmental_disorder 1 NDUFA8-related_developmental_disorder
ZBTB7A-associated_developmental_disorder 1 ZBTB7A-associated_developmental_disorder
Intellectual_developmental_disorder,_X-linked_108 1 Intellectual_developmental_disorder,_X-linked_108
MAPK1-related_Neurodevelopmental_Disorder 1 MAPK1-related_Neurodevelopmental_Disorder
SCAF4-related_Neurodevelopmental_Disorder 1 SCAF4-related_Neurodevelopmental_Disorder
KAT5-related_Neurodevelopmental_Syndrome 1 KAT5-related_Neurodevelopmental_Syndrome
Asparagine_synthetase_deficiency 1 Asparagine_synthetase_deficiency
Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_12 1 Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_12
DLG5-associated_developmental_disorder_(monoallelic) 1 DLG5-associated_developmental_disorder_(monoallelic)
DLG5-associated_developmental_disorder_(biallelic) 1 DLG5-associated_developmental_disorder_(biallelic)
PPP1R21-related_neurodevelopmental_disorder 1 PPP1R21-related_neurodevelopmental_disorder
Neurodevelopmental_disorder_with_epilepsy,_spasticity,_and_brain_atrophy 1 Neurodevelopmental_disorder_with_epilepsy,_spasticity,_and_brain_atrophy
SHMT2-related_neurodevelopmental_syndrome 1 SHMT2-related_neurodevelopmental_syndrome
LMNB1-associated_developmental_disorder 1 LMNB1-associated_developmental_disorder
TNRC6B-related_neurodevelopmental_disorder 1 TNRC6B-related_neurodevelopmental_disorder
SYT2-related_congenital_onset_presynaptic_myasthenic_syndrome 1 SYT2-related_congenital_onset_presynaptic_myasthenic_syndrome
PPP1R13L-related_dilated_cardiomyopathy 1 PPP1R13L-related_dilated_cardiomyopathy
RAP1B-related_developmental_disorder 1 RAP1B-related_developmental_disorder
PRIM1-related_Primordial_Dwarfism 1 PRIM1-related_Primordial_Dwarfism
LMNB2-related_Primary_Microcephaly 1 LMNB2-related_Primary_Microcephaly
NUDT2-related_Developmental_Disorder 1 NUDT2-related_Developmental_Disorder
JARID2-related_Neurodevelopmental_Disorder 1 JARID2-related_Neurodevelopmental_Disorder
FOXP4-related_Developmental_Disorder 1 FOXP4-related_Developmental_Disorder
ATP6V0C-related_Developmental_Disorder 1 ATP6V0C-related_Developmental_Disorder
NAPB-related_Neurodevelopmental_Disorder 1 NAPB-related_Neurodevelopmental_Disorder
NCKAP1-related_Neurodevelopmental_Disorder 1 NCKAP1-related_Neurodevelopmental_Disorder
PRKACA-related_Multiple_Congenital_Malformation_Syndrome 1 PRKACA-related_Multiple_Congenital_Malformation_Syndrome
PRKACB-related_Multiple_Congenital_Malformation_Syndrome 1 PRKACB-related_Multiple_Congenital_Malformation_Syndrome
KDELR2-related_Osteogenesis_Imperfecta 1 KDELR2-related_Osteogenesis_Imperfecta
COX16-related_Developmental_Disorder 1 COX16-related_Developmental_Disorder
KIDINS220-related_Developmental_Disorder,_biallelic 1 KIDINS220-related_Developmental_Disorder,_biallelic
Hypotonia,_hypoventilation,_impaired_intellectual_development,_dysautonomia,_epilepsy,_and_eye_abnormalities 1 Hypotonia,_hypoventilation,_impaired_intellectual_development,_dysautonomia,_epilepsy,_and_eye_abnormalities
PPIL1-related_Neurodegenerative_Pontocerebellar_Hypoplasia_with_Microcephaly 1 PPIL1-related_Neurodegenerative_Pontocerebellar_Hypoplasia_with_Microcephaly
CDC40-related_Neurodegenerative_Pontocerebellar_Hypoplasia_with_Microcephaly 1 CDC40-related_Neurodegenerative_Pontocerebellar_Hypoplasia_with_Microcephaly
MED12-related_developmental_disorder 1 MED12-related_developmental_disorder
HS2ST1-related_Developmental_Disorder 1 HS2ST1-related_Developmental_Disorder
CLCN6-related_Developmental_Disorder 1 CLCN6-related_Developmental_Disorder
UNC45B-associated_Progressive_Myopathy_with_Eccentric_Cores 1 UNC45B-associated_Progressive_Myopathy_with_Eccentric_Cores
BICRA-related_Developmental_Disorder 1 BICRA-related_Developmental_Disorder
CIMDAG_Syndrome,_monoallelic 1 CIMDAG_Syndrome,_monoallelic
CIMDAG_Syndrome,_biallelic 1 CIMDAG_Syndrome,_biallelic
KDM4B-related_Developmental_Disorder 1 KDM4B-related_Developmental_Disorder
SMG8-related_Developmental_Disorder 1 SMG8-related_Developmental_Disorder
FBXO28-related_developmental_and_epileptic_encephalopathy_with_profound_intellectual_disability 1 FBXO28-related_developmental_and_epileptic_encephalopathy_with_profound_intellectual_disability
PIDD1-related_neurodevelopmental_disorder 1 PIDD1-related_neurodevelopmental_disorder
HIRA-related_neurodevelopmental_disorder 1 HIRA-related_neurodevelopmental_disorder
FGF13-related_neurodevelopmental_disorder_(hemizygous) 1 FGF13-related_neurodevelopmental_disorder_(hemizygous)
FGF13-related_neurodevelopmental_disorder_(X-linked_dominant) 1 FGF13-related_neurodevelopmental_disorder_(X-linked_dominant)
MED27-related_neurodevelopmental_disorder 1 MED27-related_neurodevelopmental_disorder
SCUBE3-related_developmental_disorder 1 SCUBE3-related_developmental_disorder
POLR3B-related_neurodevelopmental_disorder 1 POLR3B-related_neurodevelopmental_disorder
CELF2-related_neurodevelopmental_disorder 1 CELF2-related_neurodevelopmental_disorder
TMEM251-related_skeletal_dysplasia 1 TMEM251-related_skeletal_dysplasia
Polyhydramnios,_megalencephaly,_and_symptomatic_epilepsy 1 Polyhydramnios,_megalencephaly,_and_symptomatic_epilepsy
EIF5A-related_craniofacial-neurodevelopmental_disorder 1 EIF5A-related_craniofacial-neurodevelopmental_disorder
EMC10-related_neurodevelopmental_disorder 1 EMC10-related_neurodevelopmental_disorder
BRF1-related_cerebellofaciodental_syndrome 1 BRF1-related_cerebellofaciodental_syndrome
TPP2-related_immune_deficiency,_autoimmune_disease_and_intellectual_disability 1 TPP2-related_immune_deficiency,_autoimmune_disease_and_intellectual_disability
PRDM15-related_renal_and_neurodevelopmental_disorder 1 PRDM15-related_renal_and_neurodevelopmental_disorder
CHRNB1-related_congenital_myaesthenia,_biallelic 1 CHRNB1-related_congenital_myaesthenia,_biallelic
CHRNB1-related_congenital_myaesthenia,_monoallelic 1 CHRNB1-related_congenital_myaesthenia,_monoallelic
SEMA3A-related_skeletal_dysplasia 1 SEMA3A-related_skeletal_dysplasia
COPB1-related_severe_intellectual_disability_syndrome_with_cataracts_and_variable_microcephaly 1 COPB1-related_severe_intellectual_disability_syndrome_with_cataracts_and_variable_microcephaly
MYSM1-related_congenital_bone_marrow_failure 1 MYSM1-related_congenital_bone_marrow_failure
NFE2L2-related_leukoencephalopathy,_immune_deficiency_and_hypohomocysteinaemia 1 NFE2L2-related_leukoencephalopathy,_immune_deficiency_and_hypohomocysteinaemia
SARS2-related_hyperuricemia,_pulmonary_hypertension,_renal_failure_and_alkalosis 1 SARS2-related_hyperuricemia,_pulmonary_hypertension,_renal_failure_and_alkalosis
HACD1-related_congenital_myopathy 1 HACD1-related_congenital_myopathy
NCDN-associated_neurodevelopmental_disorder_with_seizures_(biallelic) 1 NCDN-associated_neurodevelopmental_disorder_with_seizures_(biallelic)
NCDN-associated_neurodevelopmental_disorder_with_seizures_(monoallelic) 1 NCDN-associated_neurodevelopmental_disorder_with_seizures_(monoallelic)
DDB1-associated_neurodevelopmental_syndrome 1 DDB1-associated_neurodevelopmental_syndrome
ANO1-associated_intestinal_disease 1 ANO1-associated_intestinal_disease
NDUFB7-associated_lactic_acidosis_and_hypertrophic_cardiomyopathy 1 NDUFB7-associated_lactic_acidosis_and_hypertrophic_cardiomyopathy
UBE4A-associated_neurodevelopmental_disorder 1 UBE4A-associated_neurodevelopmental_disorder
MAPKAPK5-associated_syndrome_with_synpolydactyly 1 MAPKAPK5-associated_syndrome_with_synpolydactyly
CSDE1-associated_intellectual_disability_and_autism 1 CSDE1-associated_intellectual_disability_and_autism
ANKRD17-associated_neurodevelopmental_disorder 1 ANKRD17-associated_neurodevelopmental_disorder
CHD5-associated_neurodevelopmental_disorder_with_intellectual_disability,_speech_delay_and_epilepsy 1 CHD5-associated_neurodevelopmental_disorder_with_intellectual_disability,_speech_delay_and_epilepsy
GEMIN5-associated_neurodevelopmental_disorder_with_cerebellar_atrophy_and_motor_dysfunction 1 GEMIN5-associated_neurodevelopmental_disorder_with_cerebellar_atrophy_and_motor_dysfunction
SLC25A42-associated_metabolic_crises,_recurrent,_with_variable_encephalomyopathic_features_and_neurologic_regression 1 SLC25A42-associated_metabolic_crises,_recurrent,_with_variable_encephalomyopathic_features_and_neurologic_regression
COPB2-associated_developmental_delay_and_microcephaly 1 COPB2-associated_developmental_delay_and_microcephaly
PLXNA1-associated_neurodevelopmental_disorder_(biallelic) 1 PLXNA1-associated_neurodevelopmental_disorder_(biallelic)
PLXNA1-associated_neurodevelopmental_disorder_with_seizures_(monoallelic) 1 PLXNA1-associated_neurodevelopmental_disorder_with_seizures_(monoallelic)
MT-TL1-associated_mitochondrial_disorder 1 MT-TL1-associated_mitochondrial_disorder
TRAPPC10-associated_intellectual_disability 1 TRAPPC10-associated_intellectual_disability
PI4KA-associated_polymicrogyria,_perisylvian,_with_cerebellar_hypoplasia_and_arthrogryposis 1 PI4KA-associated_polymicrogyria,_perisylvian,_with_cerebellar_hypoplasia_and_arthrogryposis
GRIA1-related_neurodevelopmental_disorder 1 GRIA1-related_neurodevelopmental_disorder
TNNT3-associated_congenital_myopathy_(biallelic) 1 TNNT3-associated_congenital_myopathy_(biallelic)
Retinitis_pigmentosa_and_erythrocytic_microcytosis 1 Retinitis_pigmentosa_and_erythrocytic_microcytosis
TMEM240-associated_spinocerebellar_ataxia_and_intellectual_disability 1 TMEM240-associated_spinocerebellar_ataxia_and_intellectual_disability
STAC3-associated_congenital_myopathy_and_malignant_hyperthermia 1 STAC3-associated_congenital_myopathy_and_malignant_hyperthermia
SOS2_associated_Noonan_syndrome 1 SOS2_associated_Noonan_syndrome
NDUFB3-associated_mitochondrial_complex_I_deficiency 1 NDUFB3-associated_mitochondrial_complex_I_deficiency
KIF5A-associated_severe_neonatal_myoclonus 1 KIF5A-associated_severe_neonatal_myoclonus
GBE1-associated_Glycogen_storage_disease_IV 1 GBE1-associated_Glycogen_storage_disease_IV
COL6A2-related_Ullrich_congenital_muscular_dystrophy_(biallelic) 1 COL6A2-related_Ullrich_congenital_muscular_dystrophy_(biallelic)
COL6A2-related_Ullrich_congenital_muscular_dystrophy_(monoallelic) 1 COL6A2-related_Ullrich_congenital_muscular_dystrophy_(monoallelic)
ARFGEF1-related_intellectual_disability_and_epilepsy 1 ARFGEF1-related_intellectual_disability_and_epilepsy
JAG2-related_muscular_dystrophy 1 JAG2-related_muscular_dystrophy
SIN3B-related_syndromic_intellectual_disability_and_autism_spectrum_disorder 1 SIN3B-related_syndromic_intellectual_disability_and_autism_spectrum_disorder
SLC37A4-related_congenital_disorder_of_glycosylation_with_liver_dysfunction 1 SLC37A4-related_congenital_disorder_of_glycosylation_with_liver_dysfunction
SRCAP-related_Neurodevelopmental_Disorder 1 SRCAP-related_Neurodevelopmental_Disorder
BCAS3-related_neurodevelopmental_disorder_with_thinning_of_corpus_callosum_and_cerebellar_atrophy 1 BCAS3-related_neurodevelopmental_disorder_with_thinning_of_corpus_callosum_and_cerebellar_atrophy
LTBP1-related_cutis_laxa_and_craniosynostosis 1 LTBP1-related_cutis_laxa_and_craniosynostosis
IPO8-related_syndromic_thoracic_aortic_aneurysm 1 IPO8-related_syndromic_thoracic_aortic_aneurysm
PGM2L1-related_neurodevelopmental_disorder 1 PGM2L1-related_neurodevelopmental_disorder
HERC2-related_neurodevelopmental_disorder 1 HERC2-related_neurodevelopmental_disorder
ALDH1A2-related_diaphragmatic_hernia_and_pulmonary_hypoplasia 1 ALDH1A2-related_diaphragmatic_hernia_and_pulmonary_hypoplasia
POU4F1-related_ataxia,_intention_tremor,_and_hypotonia_syndrome 1 POU4F1-related_ataxia,_intention_tremor,_and_hypotonia_syndrome
NDUFA12-associated_mtochondrial_complex_I_deficiency 1 NDUFA12-associated_mtochondrial_complex_I_deficiency
THG1L-associated_cerebellar_ataxia 1 THG1L-associated_cerebellar_ataxia
RNPC3-associated_growth_hormone_deficiency_and_short_stature 1 RNPC3-associated_growth_hormone_deficiency_and_short_stature
PDIA6-associated_syndromic_neonatal_diabetes_and_asphyxiating_thoracic_dystrophy 1 PDIA6-associated_syndromic_neonatal_diabetes_and_asphyxiating_thoracic_dystrophy
UFSP2-associated_developmental_delay_and_epilepsy 1 UFSP2-associated_developmental_delay_and_epilepsy
IFT74-associated_ciliopathy 1 IFT74-associated_ciliopathy
ACBD5_deficiency 1 ACBD5_deficiency
AFG3L2-related_ataxia_and_seizures 1 AFG3L2-related_ataxia_and_seizures
GLRA1-related_hyperexplexia,_monoallelic 1 GLRA1-related_hyperexplexia,_monoallelic
GLRA1-related_hyperexplexia,_biallelic 1 GLRA1-related_hyperexplexia,_biallelic
GLRB-related_hyperexplexia,_monoallelic 1 GLRB-related_hyperexplexia,_monoallelic
GLRB-related_hyperexplexia,_biallelic 1 GLRB-related_hyperexplexia,_biallelic
GPHN-related_molybdenum_cofactor_deficiency 1 GPHN-related_molybdenum_cofactor_deficiency
KCNA1-related_epileptic_encephalopathy,_biallelic 1 KCNA1-related_epileptic_encephalopathy,_biallelic
KCNA1-related_epileptic_encephalopathy,_monoallelic 1 KCNA1-related_epileptic_encephalopathy,_monoallelic
KCNMA1-related_developmental_delay,_seizures_and_cerebellar_atrophy 1 KCNMA1-related_developmental_delay,_seizures_and_cerebellar_atrophy
PNPO-related_neonatal_encephalopathy_responsive_to_pyridoxal-5'-phosphate 1 PNPO-related_neonatal_encephalopathy_responsive_to_pyridoxal-5'-phosphate
OTOFACIOCERVICAL_SYNDROME 1 OTOFACIOCERVICAL_SYNDROME
Sulfite_oxidase_deficiency 1 Sulfite_oxidase_deficiency
NAA20-associated_developmental_delay_and_microcephaly 1 NAA20-associated_developmental_delay_and_microcephaly
CEP85L-associated_posterior-predominant_lissencephaly 1 CEP85L-associated_posterior-predominant_lissencephaly
NSRP1-associated_developmental_delay,_epilepsy_and_microcephaly 1 NSRP1-associated_developmental_delay,_epilepsy_and_microcephaly
WDR11-associated_intellectual_disability_and_microcephaly 1 WDR11-associated_intellectual_disability_and_microcephaly
NARS2-associated_oxidative_phosphorylation_deficiency 1 NARS2-associated_oxidative_phosphorylation_deficiency
PUS3-associated_neurodevelopmental_disorder_with_microcephaly_and_gray_sclerae 1 PUS3-associated_neurodevelopmental_disorder_with_microcephaly_and_gray_sclerae
ATG7-related_intellectual_disability_and_ataxia 1 ATG7-related_intellectual_disability_and_ataxia
TP73-related_ciliary_dyskinesia_and_lissencephaly 1 TP73-related_ciliary_dyskinesia_and_lissencephaly
AP1G1-related_intellectual_disability,_biallelic 1 AP1G1-related_intellectual_disability,_biallelic
AP1G1-related_intellectual_disability_and_epilepsy,_monoallelic 1 AP1G1-related_intellectual_disability_and_epilepsy,_monoallelic
EDEM3-related_congenital_disorder_of_glycosylation 1 EDEM3-related_congenital_disorder_of_glycosylation
CLCN3-related_Neurodevelopmental_disorder_with_seizures_and_brain_abnormalities 1 CLCN3-related_Neurodevelopmental_disorder_with_seizures_and_brain_abnormalities
CLCN3-related_Neurodevelopmental_disorder_with_hypotonia_and_brain_abnormalities 1 CLCN3-related_Neurodevelopmental_disorder_with_hypotonia_and_brain_abnormalities
TNPO2-related_intellectual_disability 1 TNPO2-related_intellectual_disability
GRIK2-related_intellectual_disability_and_hypomyelination 1 GRIK2-related_intellectual_disability_and_hypomyelination
COPB2-related_developmental_delay_and_osteopenia 1 COPB2-related_developmental_delay_and_osteopenia
ZFYVE19-related_congenital_hepatic_fibrosis,_sclerosing_cholangiopathy_and_high-GGT_cholestasis 1 ZFYVE19-related_congenital_hepatic_fibrosis,_sclerosing_cholangiopathy_and_high-GGT_cholestasis
TRAPPC2L-related_Encephalopathy,_progressive,_early-onset,_with_episodic_rhabdomyolysis 1 TRAPPC2L-related_Encephalopathy,_progressive,_early-onset,_with_episodic_rhabdomyolysis
RNU12-related_CDAGS_syndrome 1 RNU12-related_CDAGS_syndrome
TMEM222-related_Neurodevelopmental_disorder_with_motor_and_speech_delay_and_behavioral_abnormalities 1 TMEM222-related_Neurodevelopmental_disorder_with_motor_and_speech_delay_and_behavioral_abnormalities
ELFN1-related_intellectual_disability_and_epilepsy 1 ELFN1-related_intellectual_disability_and_epilepsy
OGDH-related_neurodevelopmental_disorder 1 OGDH-related_neurodevelopmental_disorder
RYR2-related_Catecholaminergic_polymorphic_ventricular_tachycardia_and_intellectual_disability 1 RYR2-related_Catecholaminergic_polymorphic_ventricular_tachycardia_and_intellectual_disability
HDAC4-related_intellectual_disability 1 HDAC4-related_intellectual_disability
3-methylglutaconic_aciduria_with_deafness,_encephalopathy,_and_Leigh-like_syndrome 1 3-methylglutaconic_aciduria_with_deafness,_encephalopathy,_and_Leigh-like_syndrome
YRDC-associated_nephrotic_syndrome_and_microcephaly 1 YRDC-associated_nephrotic_syndrome_and_microcephaly
SLC38A3-associated_epileptic_encephalopathy. 1 SLC38A3-associated_epileptic_encephalopathy.
GRIN1-associated_Neurodevelopmental_disorder_with_or_without_hyperkinetic_movements_and_seizures,_autosomal_recessive 1 GRIN1-associated_Neurodevelopmental_disorder_with_or_without_hyperkinetic_movements_and_seizures,_autosomal_recessive
ONECUT1-associated_neonatal_diabetes 1 ONECUT1-associated_neonatal_diabetes
WASHC5-associated_intellectual_disability,_congenital_cardiac_malformation_and_Dandy-Walker_malformation 1 WASHC5-associated_intellectual_disability,_congenital_cardiac_malformation_and_Dandy-Walker_malformation
LONP1-associated_congenital_diaphragmatic_hernia 1 LONP1-associated_congenital_diaphragmatic_hernia
SPATA5L1-associated_sensorineural_hearing_loss_and_intellectual_disability 1 SPATA5L1-associated_sensorineural_hearing_loss_and_intellectual_disability
ABHD16A-associated_spastic_paraplegia,_intellectual_disability_and_thin_corpus_callosum 1 ABHD16A-associated_spastic_paraplegia,_intellectual_disability_and_thin_corpus_callosum
LMBRD2-associated_intellectual_disability 1 LMBRD2-associated_intellectual_disability
CHRM1-associated_intellectual_disability 1 CHRM1-associated_intellectual_disability
HMGB1-related_intellectual_disability 1 HMGB1-related_intellectual_disability
NHLRC2-related_fibrosis,_neurodegeneration,_and_cerebral_angiomatosis 1 NHLRC2-related_fibrosis,_neurodegeneration,_and_cerebral_angiomatosis
RBBP8-related_microcephaly_and_intellectual_disability 1 RBBP8-related_microcephaly_and_intellectual_disability
GDF11-related_vertebral_hypersegmentation,_orofacial_anomalies_and_neurodevelopmental_disorder. 1 GDF11-related_vertebral_hypersegmentation,_orofacial_anomalies_and_neurodevelopmental_disorder.
ATP5F1A-related_failure_to_thrive,_hyperlactatemia_and_hyperammonemia 1 ATP5F1A-related_failure_to_thrive,_hyperlactatemia_and_hyperammonemia
ATP5F1A-related_mitochondrial_encephalopathy 1 ATP5F1A-related_mitochondrial_encephalopathy
AKT2-related_hypoinsulinemic_hypoglycemia_and_hemihypertrophy 1 AKT2-related_hypoinsulinemic_hypoglycemia_and_hemihypertrophy
RNF125-related_intellectual_disability_and_macrocephaly 1 RNF125-related_intellectual_disability_and_macrocephaly
ALKBH8-related_intellectual_disability,_microcephaly_and_seizures 1 ALKBH8-related_intellectual_disability,_microcephaly_and_seizures
FZR1-related_intellectual_disability_and_epilepsy 1 FZR1-related_intellectual_disability_and_epilepsy
SUFU-related_Joubert_and_congenital_ocular_motor_apraxia 1 SUFU-related_Joubert_and_congenital_ocular_motor_apraxia
SPRED2-related_Noonan_syndrome 1 SPRED2-related_Noonan_syndrome
STT3A-related_type_I_congenital_disorder_of_glycosylation_with_neuromusculoskeletal_disease 1 STT3A-related_type_I_congenital_disorder_of_glycosylation_with_neuromusculoskeletal_disease
PRORP-related_mitochondrial_disorder 1 PRORP-related_mitochondrial_disorder
GOLGA2-related_myopathy,_seizures_and_microcephaly 1 GOLGA2-related_myopathy,_seizures_and_microcephaly
PCDHGC4-related_neurodevelopmental_disorder_with_microcephaly_and_seizures 1 PCDHGC4-related_neurodevelopmental_disorder_with_microcephaly_and_seizures
ACER3-related_leukodystrophy 1 ACER3-related_leukodystrophy
HYAL2-related_syndrome_with_cleft_lip_and_palate_and_congenital_cardiac_anomalies 1 HYAL2-related_syndrome_with_cleft_lip_and_palate_and_congenital_cardiac_anomalies
DYNC2LI1-related_short-rib_polydactyly 1 DYNC2LI1-related_short-rib_polydactyly
OGDHL-related_neurodevelopmental_disorder_with_seizures,_hearing_loss_and_gait_ataxia 1 OGDHL-related_neurodevelopmental_disorder_with_seizures,_hearing_loss_and_gait_ataxia
SARS1-related_neurodevelopmental_disorder_with_microcephaly,_ataxia,_and_seizures 1 SARS1-related_neurodevelopmental_disorder_with_microcephaly,_ataxia,_and_seizures
CDH11-related_brachioskeletogenital_syndrome 1 CDH11-related_brachioskeletogenital_syndrome
SLIRP-related_mitochondrial_encephalomyopathy 1 SLIRP-related_mitochondrial_encephalomyopathy
PRKG2-related_acromesomelic_dysplasia_and_spondylometaphyseal_dysplasia 1 PRKG2-related_acromesomelic_dysplasia_and_spondylometaphyseal_dysplasia
ARPC4-related_microcephaly_and_developmental_delay 1 ARPC4-related_microcephaly_and_developmental_delay
CPSF3-associated_neurodevelopmental_disorder_with_seizures_and_microcephaly 1 CPSF3-associated_neurodevelopmental_disorder_with_seizures_and_microcephaly
GNE-associated_congenital_myopathy 1 GNE-associated_congenital_myopathy
GNE-associated_sialuria 1 GNE-associated_sialuria
MAN2C1-associated_neurodevelopmental_disorder_with_cerebral_malformations 1 MAN2C1-associated_neurodevelopmental_disorder_with_cerebral_malformations
BAP1-associated_neurodevelopmental_syndrome 1 BAP1-associated_neurodevelopmental_syndrome
Nemaline/Cap_myopathy 1 Nemaline/Cap_myopathy
THUMPD1_neurodevelopment_disorder 1 THUMPD1_neurodevelopment_disorder
NRCAM_neurodevelopmental_disorder_with_dysmorphic_features,_hypotonia_and_spasticity 1 NRCAM_neurodevelopmental_disorder_with_dysmorphic_features,_hypotonia_and_spasticity
RORB-epilepsy_and_neurodevelopmental_disorder 1 RORB-epilepsy_and_neurodevelopmental_disorder
DISTAL_ARTHROGRYPOSIS 1 DISTAL_ARTHROGRYPOSIS
H3F3A_associated_neurodevelopmental_disorder 1 H3F3A_associated_neurodevelopmental_disorder
H3F3B_associated_neurodevelopmental_disorder 1 H3F3B_associated_neurodevelopmental_disorder
Mitochondrial_complex_I_deficiency,_nuclear_type_7 1 Mitochondrial_complex_I_deficiency,_nuclear_type_7
HPE-related_disorder 1 HPE-related_disorder
DNAH14-related_Neurodevelopmental_disorder 1 DNAH14-related_Neurodevelopmental_disorder
MMP15-related_developmental_disorder 1 MMP15-related_developmental_disorder
DPH5-related_neurodevelopmental_disorder 1 DPH5-related_neurodevelopmental_disorder
Early-onset_oculopharyngeal_muscular_dystrophy 1 Early-onset_oculopharyngeal_muscular_dystrophy
PRDM13-related_olivopentocerebellar_hypoplasia_syndrome 1 PRDM13-related_olivopentocerebellar_hypoplasia_syndrome
ATP2B1-related_neurodevelopmental_disorder 1 ATP2B1-related_neurodevelopmental_disorder
NAD_deficiency_disorder 1 NAD_deficiency_disorder
Osteootohepatoenteric_syndrome 1 Osteootohepatoenteric_syndrome
CEROID_LIPOFUSCINOSIS,_NEURONAL,_10 1 CEROID_LIPOFUSCINOSIS,_NEURONAL,_10
CEROID_LIPOFUSCINOSIS,_NEURONAL,_5 1 CEROID_LIPOFUSCINOSIS,_NEURONAL,_5
CEROID_LIPOFUSCINOSIS,_NEURONAL,_1 1 CEROID_LIPOFUSCINOSIS,_NEURONAL,_1
Microcornea,_myopic_chorioretinal_atrophy,_and_telecanthus 1 Microcornea,_myopic_chorioretinal_atrophy,_and_telecanthus
External_Ophthalmoplegia,_Rib,_and_Vertebral_Anomalies 1 External_Ophthalmoplegia,_Rib,_and_Vertebral_Anomalies
BRUCK_SYNDROME_TYPE_1 1 BRUCK_SYNDROME_TYPE_1
WNK3-related_neurodevelopmental_disorder 1 WNK3-related_neurodevelopmental_disorder
PAN2-related_neurodevelopmental_disorder_with_multiple_congenital_anomalies 1 PAN2-related_neurodevelopmental_disorder_with_multiple_congenital_anomalies
CLDN5-related_neurodevelopmental_disorder 1 CLDN5-related_neurodevelopmental_disorder
PPFIBP1-related_neurodevelopmental_disorder 1 PPFIBP1-related_neurodevelopmental_disorder
ATP9A-related_neurodevelopmental_disorder 1 ATP9A-related_neurodevelopmental_disorder
SLC32A1-associated_developmental_and_epileptic_encephalopathy 1 SLC32A1-associated_developmental_and_epileptic_encephalopathy
TMEM63C-associated_hereditary_spastic_paraplegia 1 TMEM63C-associated_hereditary_spastic_paraplegia
ADAM22-associated_developmental_and_epileptic_encephalopathy 1 ADAM22-associated_developmental_and_epileptic_encephalopathy
CHKA-related_neurodevelopmental_disorder 1 CHKA-related_neurodevelopmental_disorder
DOHH-related_neurodevelopmental_disorder 1 DOHH-related_neurodevelopmental_disorder
FRA10AC1-related_neurodevelopmental_disorder 1 FRA10AC1-related_neurodevelopmental_disorder
PSMC1-related_neurodevelopmental_disorder 1 PSMC1-related_neurodevelopmental_disorder
TMEM218-associated_ciliopathy 1 TMEM218-associated_ciliopathy
PRDX3-associated_cerebellar_ataxia 1 PRDX3-associated_cerebellar_ataxia
TAF8-associated_neurodevelopmental_disorder 1 TAF8-associated_neurodevelopmental_disorder
MED11-associated_neurodevelopmental_disorder 1 MED11-associated_neurodevelopmental_disorder
TAF4-related_neurodevelopmental_disorder 1 TAF4-related_neurodevelopmental_disorder
UBAP2L-associated_neurodevelopmental_disorder 1 UBAP2L-associated_neurodevelopmental_disorder
GABBR1-associated_neurodevelopmental_disorder 1 GABBR1-associated_neurodevelopmental_disorder
MTSS2-associated_syndromic_intellectual_disability 1 MTSS2-associated_syndromic_intellectual_disability
GABRG1-associated_epileptic_encephalopathy 1 GABRG1-associated_epileptic_encephalopathy
RRM1-related_mitochondrial_DNA_depletion/deletions_syndrome 1 RRM1-related_mitochondrial_DNA_depletion/deletions_syndrome
ZMYND8-related_neurodevelopmental_disorder 1 ZMYND8-related_neurodevelopmental_disorder
TMEM163-related_hypomyelinating_leukodystrophy_ 1 TMEM163-related_hypomyelinating_leukodystrophy_
GRM7-related_neurodevelopmental_disorder 1 GRM7-related_neurodevelopmental_disorder
TMEM147-related_developmental_disorder 1 TMEM147-related_developmental_disorder
PROSER1-related_developmental_disorder 1 PROSER1-related_developmental_disorder
BUB1-related_microcephaly_and_developmental_disorder 1 BUB1-related_microcephaly_and_developmental_disorder
Waardenburg_syndrome_type_3 1 Waardenburg_syndrome_type_3
IREB2-related_neurodevelopmental_disorder 1 IREB2-related_neurodevelopmental_disorder
SEMA6B-related_neurodevelopmental_disorder_ 1 SEMA6B-related_neurodevelopmental_disorder_
HECW2-associated_neurodevelopmental_disorder 1 HECW2-associated_neurodevelopmental_disorder
Distal_hereditary_motor_neuropathy 1 Distal_hereditary_motor_neuropathy
WARS1-associated_neurodevelopmental_syndrome 1 WARS1-associated_neurodevelopmental_syndrome
SLC13A1-associated_hypersulfaturia_and_hyposulfatemia 1 SLC13A1-associated_hypersulfaturia_and_hyposulfatemia
MYCBP2-related_developmental_delay_with_corpus_callosum_defects 1 MYCBP2-related_developmental_delay_with_corpus_callosum_defects
EXOSC2-associated_short_stature,_hearing_loss,_retinitis_pigmentosa,_and_distinctive_facies_syndrome 1 EXOSC2-associated_short_stature,_hearing_loss,_retinitis_pigmentosa,_and_distinctive_facies_syndrome
DNAJB4-related_myopathy_with_early_respiratory_failure 1 DNAJB4-related_myopathy_with_early_respiratory_failure
FOXI3-related_microtia_and_craniofacial_microsomia 1 FOXI3-related_microtia_and_craniofacial_microsomia
DAW1-associated_ciliopathy 1 DAW1-associated_ciliopathy
SCNM1-associated_orofaciodigital_syndrome 1 SCNM1-associated_orofaciodigital_syndrome
LETM1-related_neurodevelopmental_disorder 1 LETM1-related_neurodevelopmental_disorder
FRMD5-related_developmental_disorder_ 1 FRMD5-related_developmental_disorder_
SLC35B2-related_chondrodysplasia_with_hypomyelinating_leukodystrophy 1 SLC35B2-related_chondrodysplasia_with_hypomyelinating_leukodystrophy
ATL1-associated_hereditary_spastic_paraplegia 1 ATL1-associated_hereditary_spastic_paraplegia
TRPC5-related_neurodevelopmental_disorder 1 TRPC5-related_neurodevelopmental_disorder
NUP54-related_early-onset_dystonia_with_striatal_lesions 1 NUP54-related_early-onset_dystonia_with_striatal_lesions
Developmental_delay 1 Developmental_delay
WDR5-related_neurodevelopmental_disorder 1 WDR5-related_neurodevelopmental_disorder
TRA2B-associated_neurodevelopmental_syndrome 1 TRA2B-associated_neurodevelopmental_syndrome
CAMSAP1-associated_neuronal_migration_disorder 1 CAMSAP1-associated_neuronal_migration_disorder
MAN2A2-related_disorder_of_glycosylation 1 MAN2A2-related_disorder_of_glycosylation
Rabin-Pappas_syndrome 1 Rabin-Pappas_syndrome
SLC30A7-associated_Joubert_syndrome 1 SLC30A7-associated_Joubert_syndrome
BAZ2B-related_neurodevelopmental_disorder 1 BAZ2B-related_neurodevelopmental_disorder
NAE1-associated_neurodevelopmental_disorder_with_intellectual_disability,_ischiopubic_hypoplasia,_stress-mediated_lymphopenia_and_neurodegeneration 1 NAE1-associated_neurodevelopmental_disorder_with_intellectual_disability,_ischiopubic_hypoplasia,_stress-mediated_lymphopenia_and_neurodegeneration
ZMYM3-related_neurodevelopmental_disorder 1 ZMYM3-related_neurodevelopmental_disorder
JMJD1C-related_neurodevelopmental_disorder 1 JMJD1C-related_neurodevelopmental_disorder
ATG4D-related_neurodevelopmental_disorder 1 ATG4D-related_neurodevelopmental_disorder
AMOTL1-related_orofacial_clefting,_cardiac_anomalies,_and_tall_stature 1 AMOTL1-related_orofacial_clefting,_cardiac_anomalies,_and_tall_stature
HMGB1-related_brachyphalangy,_polydactyly_and_tibial_aplasia_syndrome 1 HMGB1-related_brachyphalangy,_polydactyly_and_tibial_aplasia_syndrome
ATP1A2-related_epileptic_encephalopathy 1 ATP1A2-related_epileptic_encephalopathy
Autosomal_recessive_ATP1A2-related_neuronal_migration_disorder_with_epilepsy_ 1 Autosomal_recessive_ATP1A2-related_neuronal_migration_disorder_with_epilepsy_
Autosomal_recessive_GRIN2A-related_neurodevelopmental_disorder 1 Autosomal_recessive_GRIN2A-related_neurodevelopmental_disorder
Autosomal_dominant_SARS1-related_neurodevelopmental_disorder 1 Autosomal_dominant_SARS1-related_neurodevelopmental_disorder
FXR1-related_congenital_myopathy 1 FXR1-related_congenital_myopathy
SPRY1-associated_craniosynostosis_with_inner_ear_and_renal_anomalies 1 SPRY1-associated_craniosynostosis_with_inner_ear_and_renal_anomalies
GTF2IRD1-related_neurodevelopmental_disorder 1 GTF2IRD1-related_neurodevelopmental_disorder
OTUD5-associated_neurodevelopmental_disorder 1 OTUD5-associated_neurodevelopmental_disorder
KDM2B-related_neurodevelopmental_disorder 1 KDM2B-related_neurodevelopmental_disorder
SLC1A4-related_Spastic_tetraplegia,_thin_corpus_callosum,_and_progressive_microcephaly 1 SLC1A4-related_Spastic_tetraplegia,_thin_corpus_callosum,_and_progressive_microcephaly
ARF3-related_neurodevelopmental_disorder 1 ARF3-related_neurodevelopmental_disorder
SLF2-related_developmental_disorder 1 SLF2-related_developmental_disorder
SMC5-related_developmental_disorder 1 SMC5-related_developmental_disorder
FEM1C-related_developmental_disorder 1 FEM1C-related_developmental_disorder
TCEAL1-related_neurodevelopmental_disorder_ 1 TCEAL1-related_neurodevelopmental_disorder_
REST-related_gingival_fibromatosis_and_sensorineural_hearing_loss 1 REST-related_gingival_fibromatosis_and_sensorineural_hearing_loss
UHRF1-related_immunodeficiency-centromeric_instability-facial_anomalies_syndrome 1 UHRF1-related_immunodeficiency-centromeric_instability-facial_anomalies_syndrome
MPC2-related_metabolic_disorder 1 MPC2-related_metabolic_disorder
CRLS1-related_mitochondrial_disorder_ 1 CRLS1-related_mitochondrial_disorder_
BSN-related_epilepsy_ 1 BSN-related_epilepsy_
CACNA2D1-related_neurodevelopmental_disorder_ 1 CACNA2D1-related_neurodevelopmental_disorder_
KIF5B-related_disease 1 KIF5B-related_disease
PIGP-associated_multiple_congenital_anomalies-hypotonia-seizures_syndrome 1 PIGP-associated_multiple_congenital_anomalies-hypotonia-seizures_syndrome
STX1A-associated_neurodevelopmental_disorder_with_epilepsy 1 STX1A-associated_neurodevelopmental_disorder_with_epilepsy
STX1A-associated_neurodevelopmental_disorder_without_epilepsy_ 1 STX1A-associated_neurodevelopmental_disorder_without_epilepsy_
PIP5K1C-associated_neurodevelopmental_disorder 1 PIP5K1C-associated_neurodevelopmental_disorder
PLAG1-associated_Silver_Russell_Syndrome 1 PLAG1-associated_Silver_Russell_Syndrome
LEF1-related_ectodermal_dysplasia_and_limb_malformation 1 LEF1-related_ectodermal_dysplasia_and_limb_malformation
Autosomal_dominant_EIF4A2-related_neurodevelopmental_disorder_with_hypotonia_and_epilepsy__ 1 Autosomal_dominant_EIF4A2-related_neurodevelopmental_disorder_with_hypotonia_and_epilepsy__
Autosomal_recessive_EIF4A2-related_neurodevelopmental_disorder_ 1 Autosomal_recessive_EIF4A2-related_neurodevelopmental_disorder_
TTI1-related_microcephaly,_intellectual_disability_and_ataxia 1 TTI1-related_microcephaly,_intellectual_disability_and_ataxia
YWHAE-related_developmental_delay,_seizures,_hypotonia_and_brain_abnormalities 1 YWHAE-related_developmental_delay,_seizures,_hypotonia_and_brain_abnormalities
GABRA2-related_epileptic_encephalopathy 1 GABRA2-related_epileptic_encephalopathy
LMOD2-related_infantile_dilated_cardiomyopathy 1 LMOD2-related_infantile_dilated_cardiomyopathy
TSPEAR-related_ectodermal_dysplasia_and_tooth_agenesis 1 TSPEAR-related_ectodermal_dysplasia_and_tooth_agenesis
RABGAP1-related_neurodevelopmental_disorder_with_microcephaly_and_sensorineural_hearing_loss 1 RABGAP1-related_neurodevelopmental_disorder_with_microcephaly_and_sensorineural_hearing_loss
FOSL2-related_neurodevelopmental_disorder_with_scalp_and_enamel_defects 1 FOSL2-related_neurodevelopmental_disorder_with_scalp_and_enamel_defects
SNAPC4-related_neurodevelopmental_disorder_with_motor_regression,_progressive_spastic_paraplegia,_and_oromotor_dysfunction 1 SNAPC4-related_neurodevelopmental_disorder_with_motor_regression,_progressive_spastic_paraplegia,_and_oromotor_dysfunction
PABPC1-related_developmental_delay 1 PABPC1-related_developmental_delay
IER3IP1-related_microcephaly_with_simplified_gyral_pattern,_epilepsy,_and_neonatal_diabetes 1 IER3IP1-related_microcephaly_with_simplified_gyral_pattern,_epilepsy,_and_neonatal_diabetes
CWF19L1-related_developmental_delay_with_epilepsy,_progressive_ataxia_and_cerebellar_atrophy 1 CWF19L1-related_developmental_delay_with_epilepsy,_progressive_ataxia_and_cerebellar_atrophy
PHF5A-related_neurodevelopmental_disorder_with_congenital_malformations 1 PHF5A-related_neurodevelopmental_disorder_with_congenital_malformations
KLHL20-related_developmental_disorder_with_seizures 1 KLHL20-related_developmental_disorder_with_seizures
SLC18A2-related_neurotransmitter_disorder_with_dystonia_and_oculogyric_crisis 1 SLC18A2-related_neurotransmitter_disorder_with_dystonia_and_oculogyric_crisis
HECTD4-related_neurodevelopmental_disorder_with_seizures,_hypotonia,_spasticity,_and_agenesis_of_the_corpus_callosum 1 HECTD4-related_neurodevelopmental_disorder_with_seizures,_hypotonia,_spasticity,_and_agenesis_of_the_corpus_callosum
UBE3C-related_neurodevelopmental_disorder_with_absent_speech_and_movement_and_behavioural_abnormalities 1 UBE3C-related_neurodevelopmental_disorder_with_absent_speech_and_movement_and_behavioural_abnormalities
MRTFB-related_neurodevelopmental_disorder 1 MRTFB-related_neurodevelopmental_disorder
ANGPT2-related_non-immune_hydrops_fetalis 1 ANGPT2-related_non-immune_hydrops_fetalis
WNT7B-related_PDAC_syndrome 1 WNT7B-related_PDAC_syndrome
CBX1-related_neurodevelopmental_disorder 1 CBX1-related_neurodevelopmental_disorder
PSMC3-related_neurodevelopmental_disorder 1 PSMC3-related_neurodevelopmental_disorder
ESAM-related_neurodevelopmental_disorder_with_intracranial_hemorrhage,_seizures,_and_spasticity 1 ESAM-related_neurodevelopmental_disorder_with_intracranial_hemorrhage,_seizures,_and_spasticity
CNOT2-related_neurodevelopmental_disorder_with_hypotonia 1 CNOT2-related_neurodevelopmental_disorder_with_hypotonia
CNOT9-related_developmental_disorder_with_seizures 1 CNOT9-related_developmental_disorder_with_seizures
FDXR-related_optic_atrophy-ataxia-peripheral_neuropathy-global_developmental_delay_syndrome 1 FDXR-related_optic_atrophy-ataxia-peripheral_neuropathy-global_developmental_delay_syndrome
FILIP1-related_arthrogryposis_multiplex_congenita_with_microcephaly 1 FILIP1-related_arthrogryposis_multiplex_congenita_with_microcephaly
AMFR-related_spastic_paraplegia_with/without_neurodevelopmental_delay 1 AMFR-related_spastic_paraplegia_with/without_neurodevelopmental_delay
DHX9-related_neurodevelopmental_disorder_and_Charcot-Marie-Tooth_disease 1 DHX9-related_neurodevelopmental_disorder_and_Charcot-Marie-Tooth_disease
TBC1D32-related_ciliopathy 1 TBC1D32-related_ciliopathy
MTFMT-related_mitochondrial_disease_with_regression_and_lactic_acidosis 1 MTFMT-related_mitochondrial_disease_with_regression_and_lactic_acidosis
FIBP-related_overgrowth_syndrome_with_developmental_delay_(Thauvin-Robinet-Faivre_syndrome) 1 FIBP-related_overgrowth_syndrome_with_developmental_delay_(Thauvin-Robinet-Faivre_syndrome)
YWHAZ-related_developmental_delay_with_simplified_gyral_pattern 1 YWHAZ-related_developmental_delay_with_simplified_gyral_pattern
PPM1K-related_maple_syrup_urine_disease 1 PPM1K-related_maple_syrup_urine_disease
CBFB-related_cleidocranial_dysplasia 1 CBFB-related_cleidocranial_dysplasia
SART3-related_neurodevelopmental_disorder_with_46,XY_gonadal_dysgenesis_(INDYGON) 1 SART3-related_neurodevelopmental_disorder_with_46,XY_gonadal_dysgenesis_(INDYGON)
ERI1-related_severe_growth_restriction_and_skeletal_dysplasia 1 ERI1-related_severe_growth_restriction_and_skeletal_dysplasia
ERI1-related_brachydactyly_and_mild_neurodevelopmental_delay 1 ERI1-related_brachydactyly_and_mild_neurodevelopmental_delay
ZNF808-related_pancreatic_agenesis 1 ZNF808-related_pancreatic_agenesis
RPH3A-related_neurodevelopmental_disorder 1 RPH3A-related_neurodevelopmental_disorder
TMEM63B-related_developmental_and_epileptic_encephalopathy_with_anaemia 1 TMEM63B-related_developmental_and_epileptic_encephalopathy_with_anaemia
IKZF2-related_ICHAD_syndrome 1 IKZF2-related_ICHAD_syndrome
TDP2-related_spinocerebellar_ataxia_with_seizures_and_developmental_delay 1 TDP2-related_spinocerebellar_ataxia_with_seizures_and_developmental_delay
EZH1-related_neurodevelopmental_disorder 1 EZH1-related_neurodevelopmental_disorder
INTS1-related_neurodevelopmental_disorder_with_cataracts,_hypotonia_and_gait_abnormality 1 INTS1-related_neurodevelopmental_disorder_with_cataracts,_hypotonia_and_gait_abnormality
TOR1A-associated_arthrogryposis_multiplex_congenita_(AR) 1 TOR1A-associated_arthrogryposis_multiplex_congenita_(AR)
HMGCR-related_limb-girdle_muscular_dystrophy 1 HMGCR-related_limb-girdle_muscular_dystrophy
RAB34-related_orofaciodigital_syndrome 1 RAB34-related_orofaciodigital_syndrome
PEX14-related_autosomal_dominant_Zellweger_spectrum_disorder 1 PEX14-related_autosomal_dominant_Zellweger_spectrum_disorder
LSM11-related_Aicardi-Goutieres_syndrome 1 LSM11-related_Aicardi-Goutieres_syndrome
CRELD1-related_neurodevelopmental_disorder_with_hypotonia_and_seizures 1 CRELD1-related_neurodevelopmental_disorder_with_hypotonia_and_seizures
AGPAT3-related_intellectual_disability_and_retinitis_pigmentosa_ 1 AGPAT3-related_intellectual_disability_and_retinitis_pigmentosa_
DOT1L-related_neurodevelopmental_disorder_with_intracranial_anomalies 1 DOT1L-related_neurodevelopmental_disorder_with_intracranial_anomalies
CTR9-related_neurodevelopmental_disorder 1 CTR9-related_neurodevelopmental_disorder
PRPF19-related_neurodevelopmental_disorder 1 PRPF19-related_neurodevelopmental_disorder
RNU4-2_related_neurodevelopmental_disorder_with_microcephaly_and_seizures 1 RNU4-2_related_neurodevelopmental_disorder_with_microcephaly_and_seizures
PPFIA3-related_neurodevelopmental_disorder 1 PPFIA3-related_neurodevelopmental_disorder
CAMK2D-related_neurodevelopmental_disorder_and_dilated_cardiomyopathy_ 1 CAMK2D-related_neurodevelopmental_disorder_and_dilated_cardiomyopathy_
PAX1-related_oculo-auriculo-vertebral_syndrome 1 PAX1-related_oculo-auriculo-vertebral_syndrome
MAST3-related_developmental_and_epileptic_encephalopathy 1 MAST3-related_developmental_and_epileptic_encephalopathy
ACTC1-related_distal_arthrogryposis_with_congenital_heart_disease 1 ACTC1-related_distal_arthrogryposis_with_congenital_heart_disease
KCND2-related_neurodevelopmental_disorder_with_or_without_seizures 1 KCND2-related_neurodevelopmental_disorder_with_or_without_seizures
KCNN2-related_neurodevelopmental_disorder_with_or_without_movement_disorder 1 KCNN2-related_neurodevelopmental_disorder_with_or_without_movement_disorder
ZBTB11-related_neurodevelopmental_disorder_with_or_without_cataracts_and_movement_disorder 1 ZBTB11-related_neurodevelopmental_disorder_with_or_without_cataracts_and_movement_disorder
DENND5B-related_neurodevelopmental_disorder_with_cortical_migration_and_white_matter_abnormalities 1 DENND5B-related_neurodevelopmental_disorder_with_cortical_migration_and_white_matter_abnormalities
ZBTB47-related_developmental_delay,_intellectual_disability,_hypotonia_and_seizures 1 ZBTB47-related_developmental_delay,_intellectual_disability,_hypotonia_and_seizures
INTS11-related_neurodevelopmental_disorder_with_motor_and_language_delay,_ocular_defects,_and_brain_abnormalities 1 INTS11-related_neurodevelopmental_disorder_with_motor_and_language_delay,_ocular_defects,_and_brain_abnormalities
MAP4K4-related_neurodevelopmental_disorder_with/without_congenital_anomalies 1 MAP4K4-related_neurodevelopmental_disorder_with/without_congenital_anomalies
LHX2-related_neurodevelopmental_disorder_with_or_without_microcephaly_ 1 LHX2-related_neurodevelopmental_disorder_with_or_without_microcephaly_
RNH1-related_susceptibility_to_infection-related_encephalopathy 1 RNH1-related_susceptibility_to_infection-related_encephalopathy
NALCN-related_temporal_lobe_epilepsy 1 NALCN-related_temporal_lobe_epilepsy
RRAGC-related_congenital_dilated_cardiomyopathy_with_hyperlactatemia,_deranged_liver_function_and_cataracts_ 1 RRAGC-related_congenital_dilated_cardiomyopathy_with_hyperlactatemia,_deranged_liver_function_and_cataracts_
GTPBP1-related_neurodevelopmental_disorder_with_severe-profound_intellectual_disability,_spasticity_and_ectodermal_features. 1 GTPBP1-related_neurodevelopmental_disorder_with_severe-profound_intellectual_disability,_spasticity_and_ectodermal_features.
BORCS8-related_early-infantile_neurological_disorder_with_severe_intellectual_disability,_hypotonia_and_congenital_heart_disease 1 BORCS8-related_early-infantile_neurological_disorder_with_severe_intellectual_disability,_hypotonia_and_congenital_heart_disease
FICD-related_infancy-onset_diabetes_and_neurodevelopmental_disorder 1 FICD-related_infancy-onset_diabetes_and_neurodevelopmental_disorder
DSC2-related_ARVC 1 DSC2-related_ARVC
DSG2-related_ARVC 1 DSG2-related_ARVC
DSP-related_ARVC 1 DSP-related_ARVC
PKP2-related__ARVC 1 PKP2-related__ARVC
TMEM43-related__ARVC 1 TMEM43-related__ARVC
JUP-related_Naxos_disease 1 JUP-related_Naxos_disease
CALM1-related_CPVT 1 CALM1-related_CPVT
CALM2-related_CPVT 1 CALM2-related_CPVT
CALM3-related_CPVT 1 CALM3-related_CPVT
TECRL-related_CPVT 1 TECRL-related_CPVT
TRDN-related_CPVT 1 TRDN-related_CPVT
SCN5A-related_BrS 1 SCN5A-related_BrS
CASQ2-related_CPVT 1 CASQ2-related_CPVT
KCNH2-related_SQTS 1 KCNH2-related_SQTS
KCNJ2_relared_SQTS 1 KCNJ2_relared_SQTS
KCNQ1-related_SQTS 1 KCNQ1-related_SQTS
SLC4A3-related_SQTS 1 SLC4A3-related_SQTS
BAG3-related_DCM 1 BAG3-related_DCM
DES-related_DCM 1 DES-related_DCM
FLNC-related_DCM 1 FLNC-related_DCM
LMNA-related_DCM 1 LMNA-related_DCM
MYH7-related_DCM 1 MYH7-related_DCM
PLN-related_Intrinsic_Cardiomyopathy 1 PLN-related_Intrinsic_Cardiomyopathy
RBM20-related_DCM 1 RBM20-related_DCM
TNNC1-related_DCM 1 TNNC1-related_DCM
TNNT2-related_DCM 1 TNNT2-related_DCM
TTN-related_DCM 1 TTN-related_DCM
ACTC1-related_HCM 1 ACTC1-related_HCM
MYBPC3-related_HCM 1 MYBPC3-related_HCM
MYL2-related_HCM 1 MYL2-related_HCM
MYL3-related_HCM 1 MYL3-related_HCM
TNNI3-related_HCM 1 TNNI3-related_HCM
TPM1-related_HCM 1 TPM1-related_HCM
KCNH2-related_LQTS 1 KCNH2-related_LQTS
KCNQ1-related_LQTS 1 KCNQ1-related_LQTS
SCN5A-related_LQTS 1 SCN5A-related_LQTS
TRDN-related_LQTS 1 TRDN-related_LQTS
ALPK3-related_HCM 1 ALPK3-related_HCM
DES-related_Myofibrillar_myopathy 1 DES-related_Myofibrillar_myopathy
FHL1-related_Emery-related_Dreifuss_MD 1 FHL1-related_Emery-related_Dreifuss_MD
FLNC-related_Myofibrillar_myopathy 1 FLNC-related_Myofibrillar_myopathy
GLA-related_Fabry_disease 1 GLA-related_Fabry_disease
LAMP2-related_Danon_disease 1 LAMP2-related_Danon_disease
PRKAG2-related_cardiomyopathy 1 PRKAG2-related_cardiomyopathy
KCNQ1-related_JLNS 1 KCNQ1-related_JLNS
SLC22A5-related_primary_systemic_carnitine_deficiency 1 SLC22A5-related_primary_systemic_carnitine_deficiency
MYH7-related_HCM 1 MYH7-related_HCM
CALM1-related_LQTS 1 CALM1-related_LQTS
CALM2-related_LQTS 1 CALM2-related_LQTS
CALM3-related_LQTS 1 CALM3-related_LQTS
TNNT2-related_HCM 1 TNNT2-related_HCM
KCNJ2-related_Andersen-related_Tawil_syndrome 1 KCNJ2-related_Andersen-related_Tawil_syndrome
PTPN11-related_Noonan_syndrome 1 PTPN11-related_Noonan_syndrome
RAF1-related_Noonan_syndrome 1 RAF1-related_Noonan_syndrome
RIT1-related_Noonan_syndrome 1 RIT1-related_Noonan_syndrome
RYR2-related_CPVT 1 RYR2-related_CPVT
PTPN11-related_NSML_syndrome 1 PTPN11-related_NSML_syndrome
ABCC9-related_Cantu_Syndrome 1 ABCC9-related_Cantu_Syndrome
CRYAB-related_Alpha-related_B_crystallinpathy 1 CRYAB-related_Alpha-related_B_crystallinpathy
FXN-related_Friedreich_ataxia 1 FXN-related_Friedreich_ataxia
GAA-related_Pompe_disease 1 GAA-related_Pompe_disease
MYO6-related_nonsyndromic_genetic_hearing_loss 1 MYO6-related_nonsyndromic_genetic_hearing_loss
SLC25A4-related_Mitochondrial_disease 1 SLC25A4-related_Mitochondrial_disease
BAG3-related_Myofibrillar_myopathy 1 BAG3-related_Myofibrillar_myopathy
DSP-related_DCM 1 DSP-related_DCM
SCN5A-related_DCM 1 SCN5A-related_DCM
TTR-related_hereditary_ATTR_amyloidosis 1 TTR-related_hereditary_ATTR_amyloidosis
Anauxetic_Dysplasia 1 Anauxetic_Dysplasia
Retinoschisis 1 Retinoschisis
EXUDATIVE_VITREORETINOPATHY_1 1 EXUDATIVE_VITREORETINOPATHY_1
EXUDATIVE_VITREORETINOPATHY_5 1 EXUDATIVE_VITREORETINOPATHY_5
EXUDATIVE_VITREORETINOPATHY_2,_X-LINKED 1 EXUDATIVE_VITREORETINOPATHY_2,_X-LINKED
EXUDATIVE_VITREORETINOPATHY_6 1 EXUDATIVE_VITREORETINOPATHY_6
RETINITIS_PIGMENTOSA_72 1 RETINITIS_PIGMENTOSA_72
Sorsby_fundus_dystrophy 1 Sorsby_fundus_dystrophy
Microphthalmia,_isolated,_with_coloboma 1 Microphthalmia,_isolated,_with_coloboma
Leber_congenital_amaurosis_1 1 Leber_congenital_amaurosis_1
Leber_congenital_amaurosis_2 1 Leber_congenital_amaurosis_2
Granular_corneal_dystrophy,_type_I 1 Granular_corneal_dystrophy,_type_I
Reis-Bucklers_corneal_dystrophy 1 Reis-Bucklers_corneal_dystrophy
Thiel-Behnke_corneal_dystrophy 1 Thiel-Behnke_corneal_dystrophy
Granular_corneal_dystrophy,_type_II 1 Granular_corneal_dystrophy,_type_II
Cornea_plana 1 Cornea_plana
Fleck_corneal_dystrophy 1 Fleck_corneal_dystrophy
Schyder_corneal_dystrophy 1 Schyder_corneal_dystrophy
Macular_corneal_dystrophy 1 Macular_corneal_dystrophy
Fibrosis_of_extraocular_muscles,_congenital,_1 1 Fibrosis_of_extraocular_muscles,_congenital,_1
Fibrosis_of_extraocular_muscles,_congenital,_3B 1 Fibrosis_of_extraocular_muscles,_congenital,_3B
Fibrosis_of_extraocular_muscles,_congenital,_2 1 Fibrosis_of_extraocular_muscles,_congenital,_2
Fibrosis_of_extraocular_muscles,_congenital,_3A 1 Fibrosis_of_extraocular_muscles,_congenital,_3A
Duane_retraction_syndrome_2 1 Duane_retraction_syndrome_2
Gaze_palsy,_horizontal,_with_progressive_scoliosis 1 Gaze_palsy,_horizontal,_with_progressive_scoliosis
PHARC 1 PHARC
Weill-Marchesani-like_syndrome 1 Weill-Marchesani-like_syndrome
Ectopia_lentis,_isolated,_autosomal_recessive 1 Ectopia_lentis,_isolated,_autosomal_recessive
MICROSPHEROPHAKIA_AND/OR_MEGALOCORNEA,_WITH_ECTOPIA_LENTIS_AND_WITH_OR_WITHOUT_SECONDARY_GLAUCOMA 1 MICROSPHEROPHAKIA_AND/OR_MEGALOCORNEA,_WITH_ECTOPIA_LENTIS_AND_WITH_OR_WITHOUT_SECONDARY_GLAUCOMA
Usher_syndrome,_type_2C 1 Usher_syndrome,_type_2C
Usher_syndrome,_type_IIC,_GPR98/PDZD7_digenic 1 Usher_syndrome,_type_IIC,_GPR98/PDZD7_digenic
Syndromic_retinitis_pigmentosa 1 Syndromic_retinitis_pigmentosa
Peters-plus_syndrome 1 Peters-plus_syndrome
Wolfram_syndrome 1 Wolfram_syndrome
Night_blindness,_congenital_stationary,_autosomal_dominant_1 1 Night_blindness,_congenital_stationary,_autosomal_dominant_1
Retinitis_pigmentosa_4,_autosomal_dominant_or_recessive 1 Retinitis_pigmentosa_4,_autosomal_dominant_or_recessive
RETINITIS_PIGMENTOSA-12,_AUTOSOMAL_RECESSIVE 1 RETINITIS_PIGMENTOSA-12,_AUTOSOMAL_RECESSIVE
PIGMENTED_PARAVENOUS_CHORIORETINAL_ATROPHY 1 PIGMENTED_PARAVENOUS_CHORIORETINAL_ATROPHY
Cataract_6,_multiple_types 1 Cataract_6,_multiple_types
CATARACT_9,_MULTIPLE_TYPES 1 CATARACT_9,_MULTIPLE_TYPES
Cataract_16,_multiple_types 1 Cataract_16,_multiple_types
Myopathy,_myofibrillar,_2 1 Myopathy,_myofibrillar,_2
CATARACT_10,_MULTIPLE_TYPES 1 CATARACT_10,_MULTIPLE_TYPES
CATARACT_23 1 CATARACT_23
CATARACT_3,_MULTIPLE_TYPES 1 CATARACT_3,_MULTIPLE_TYPES
CATARACT_22,_MULTIPLE_TYPES 1 CATARACT_22,_MULTIPLE_TYPES
CATARACT_4,_MULTIPLE_TYPES 1 CATARACT_4,_MULTIPLE_TYPES
Cataract_33,_multiple_types 1 Cataract_33,_multiple_types
Cataract_15,_multiple_types 1 Cataract_15,_multiple_types
Retinitis_pigmentosa_with_or_without_situs_inversus 1 Retinitis_pigmentosa_with_or_without_situs_inversus
Ocular_albinism 1 Ocular_albinism
Leber_congenital_amaurosis_13 1 Leber_congenital_amaurosis_13
Leber_congenital_amaurosis_3 1 Leber_congenital_amaurosis_3
Retinitis_pigmentosa_14 1 Retinitis_pigmentosa_14
Leber_congenital_amaurosis_16 1 Leber_congenital_amaurosis_16
Snowflake_vitreoretinal_degeneration 1 Snowflake_vitreoretinal_degeneration
Wagner_syndrome_1 1 Wagner_syndrome_1
Enhanced_S-cone_syndrome 1 Enhanced_S-cone_syndrome
Retinitis_pigmentosa_37 1 Retinitis_pigmentosa_37
Retinitis_pigmentosa_27 1 Retinitis_pigmentosa_27
Retinal_degeneration,_autosomal_recessive,_clumped_pigment_type 1 Retinal_degeneration,_autosomal_recessive,_clumped_pigment_type
Exudative_vitreoretinopathy 1 Exudative_vitreoretinopathy
Non-syndromic_hereditary_optic_neuropathy 1 Non-syndromic_hereditary_optic_neuropathy
Persistent_hyperplastic_primary_vitreous,_autosomal_recessive 1 Persistent_hyperplastic_primary_vitreous,_autosomal_recessive
Familial_exudative_vitreoretinopathy 1 Familial_exudative_vitreoretinopathy
Retinal_dystrophy_with_or_without_extraocular_anomalies 1 Retinal_dystrophy_with_or_without_extraocular_anomalies
MICROCEPHALY_WITH_OR_WITHOUT_CHORIORETINOPATHY,_LYMPHEDEMA,_OR_INTELLECTUAL_DEVELOPMENTAL_DISORDER 1 MICROCEPHALY_WITH_OR_WITHOUT_CHORIORETINOPATHY,_LYMPHEDEMA,_OR_INTELLECTUAL_DEVELOPMENTAL_DISORDER
Primary_congenital_glaucoma 1 Primary_congenital_glaucoma
Juvenile_open_angle_glaucoma 1 Juvenile_open_angle_glaucoma
primary_open_angle_glaucoma_(POAG),_GLC1E 1 primary_open_angle_glaucoma_(POAG),_GLC1E
Glaucoma_1A,_primary_open_angle 1 Glaucoma_1A,_primary_open_angle
Foveal_hypoplasia_2,_with_or_without_optic_nerve_misrouting_and/or_anterior_segment_dysgenesis 1 Foveal_hypoplasia_2,_with_or_without_optic_nerve_misrouting_and/or_anterior_segment_dysgenesis
Optic_atrophy_10_with_or_without_ataxia,_INTELLECTUAL_DEVELOPMENTAL_DISORDER,_and_seizures 1 Optic_atrophy_10_with_or_without_ataxia,_INTELLECTUAL_DEVELOPMENTAL_DISORDER,_and_seizures
Optic_atrophy_3_with_cataract 1 Optic_atrophy_3_with_cataract
3-methylglutaconic_aciduria,_type_III 1 3-methylglutaconic_aciduria,_type_III
Corneal_dystrophy,_posterior_polymorphous,_3 1 Corneal_dystrophy,_posterior_polymorphous,_3
Usher_syndrome,_type_2D 1 Usher_syndrome,_type_2D
Cataract_31,_multiple_types 1 Cataract_31,_multiple_types
Retinitis_pigmentosa_26 1 Retinitis_pigmentosa_26
Nephronophthisis_15 1 Nephronophthisis_15
Retinitis_pigmentosa_65 1 Retinitis_pigmentosa_65
Usher_syndrome,_type_1D 1 Usher_syndrome,_type_1D
Vitreoretinopathy,_neovascular_inflammatory 1 Vitreoretinopathy,_neovascular_inflammatory
Retinal_cone_dystrophy_4 1 Retinal_cone_dystrophy_4
Aland_Island_eye_disease 1 Aland_Island_eye_disease
Cone-rod_synaptic_disorder,_congenital_nonprogressive 1 Cone-rod_synaptic_disorder,_congenital_nonprogressive
Orofaciodigital_syndrome_VI 1 Orofaciodigital_syndrome_VI
Retinal_degeneration,_late-onset,_autosomal_dominant 1 Retinal_degeneration,_late-onset,_autosomal_dominant
Neurodegeneration_with_brain_iron_accumulation_4 1 Neurodegeneration_with_brain_iron_accumulation_4
CATARACT_12,_MULTIPLE_TYPES 1 CATARACT_12,_MULTIPLE_TYPES
Bestrophinopathy,_autosomal_recessive 1 Bestrophinopathy,_autosomal_recessive
Macular_dystrophy,_vitelliform,_2 1 Macular_dystrophy,_vitelliform,_2
Microcornea,_rod-cone_dystrophy,_cataract,_and_posterior_staphyloma 1 Microcornea,_rod-cone_dystrophy,_cataract,_and_posterior_staphyloma
Ehlers-Danlos_syndrome_with_short_stature_and_limb_anomalies 1 Ehlers-Danlos_syndrome_with_short_stature_and_limb_anomalies
Optic_atrophy_9 1 Optic_atrophy_9
Spinocerebellar_ataxia_7 1 Spinocerebellar_ataxia_7
Achromatopsia_7 1 Achromatopsia_7
Bardet-Biedl_syndrome_18 1 Bardet-Biedl_syndrome_18
Retinitis_pigmentosa_74 1 Retinitis_pigmentosa_74
Usher_syndrome,_type_3A 1 Usher_syndrome,_type_3A
Retinitis_pigmentosa_61 1 Retinitis_pigmentosa_61
Myotonic_dystrophy_type_2 1 Myotonic_dystrophy_type_2
Retinitis_pigmentosa_type_49 1 Retinitis_pigmentosa_type_49
Achromatopsia_2 1 Achromatopsia_2
Retinitis_pigmentosa_45 1 Retinitis_pigmentosa_45
Achromatopsia_3 1 Achromatopsia_3
Macular_degeneration,_juvenile 1 Macular_degeneration,_juvenile
Jalili_syndrome 1 Jalili_syndrome
MARSHALL_SYNDROME 1 MARSHALL_SYNDROME
Bietti_crystalline_corneoretinal_dystrophy 1 Bietti_crystalline_corneoretinal_dystrophy
Retinitis_pigmentosa_59 1 Retinitis_pigmentosa_59
Doyne_honeycomb_degeneration_of_retina 1 Doyne_honeycomb_degeneration_of_retina
Stargardt_disease_3 1 Stargardt_disease_3
Aniridia_2 1 Aniridia_2
Tangier_disease 1 Tangier_disease
PSEUDOXANTHOMA_ELASTICUM 1 PSEUDOXANTHOMA_ELASTICUM
BARAITSER-WINTER_SYNDROME_1 1 BARAITSER-WINTER_SYNDROME_1
BARAITSER-WINTER_SYNDROME_2 1 BARAITSER-WINTER_SYNDROME_2
Isolated_ocular_coloboma 1 Isolated_ocular_coloboma
CUTIS_LAXA,_AUTOSOMAL_RECESSIVE,_TYPE_IIIA 1 CUTIS_LAXA,_AUTOSOMAL_RECESSIVE,_TYPE_IIIA
Spastic_paraplegia_9B,_autosomal_recessive 1 Spastic_paraplegia_9B,_autosomal_recessive
Alpha-methylacyl-CoA_racemase_deficiency 1 Alpha-methylacyl-CoA_racemase_deficiency
Hermansky-Pudlak_syndrome_2 1 Hermansky-Pudlak_syndrome_2
Joubert_syndrome_8 1 Joubert_syndrome_8
Cone-rod_dystrophy_and_hearing_loss 1 Cone-rod_dystrophy_and_hearing_loss
Leukoencephalopathy_with_ataxia 1 Leukoencephalopathy_with_ataxia
STICKLER_SYNDROME,_TYPE_I,_NONSYNDROMIC_OCULAR 1 STICKLER_SYNDROME,_TYPE_I,_NONSYNDROMIC_OCULAR
SPONDYLOMETAEPIPHYSEAL_DYSPLASIA_CONGENITA,_STRUDWICK_TYPE 1 SPONDYLOMETAEPIPHYSEAL_DYSPLASIA_CONGENITA,_STRUDWICK_TYPE
Corneal_dystrophy,_Fuchs_endothelial,_1 1 Corneal_dystrophy,_Fuchs_endothelial,_1
Cataract_42 1 Cataract_42
Cataract_39,_multiple_types,_autosomal_dominant 1 Cataract_39,_multiple_types,_autosomal_dominant
Cataract_20,_multiple_types 1 Cataract_20,_multiple_types
Macular_dystrophy,_butterfly-shaped_pigmentary,_2 1 Macular_dystrophy,_butterfly-shaped_pigmentary,_2
Corneal_dystrophy,_congenital_stromal 1 Corneal_dystrophy,_congenital_stromal
Singleton-Merten_syndrome_2 1 Singleton-Merten_syndrome_2
Retinitis_pigmentosa_and_hypogammaglobulinemia 1 Retinitis_pigmentosa_and_hypogammaglobulinemia
Cone-rod_dystrophy_21 1 Cone-rod_dystrophy_21
TRICHOTHIODYSTROPHY,_PHOTOSENSITIVE 1 TRICHOTHIODYSTROPHY,_PHOTOSENSITIVE
Spastic_paraplegia_35,_autosomal_recessive 1 Spastic_paraplegia_35,_autosomal_recessive
LARSEN_SYNDROME 1 LARSEN_SYNDROME
MAC_spectrum_with_limb_anomalies 1 MAC_spectrum_with_limb_anomalies
Retinitis_pigmentosa_30 1 Retinitis_pigmentosa_30
Cataract_13_with_adult_i_phenotype 1 Cataract_13_with_adult_i_phenotype
Microphthalmia_with_coloboma_6 1 Microphthalmia_with_coloboma_6
Microphthalmia,_isolated_7 1 Microphthalmia,_isolated_7
Microphthalmia 1 Microphthalmia
Myopathy,_mitochondrial_progressive,_with_congenital_cataract,_hearing_loss,_and_developmental_delay 1 Myopathy,_mitochondrial_progressive,_with_congenital_cataract,_hearing_loss,_and_developmental_delay
PSEUDOXANTHOMA_ELASTICUM-LIKE_SKIN_MANIFESTATIONS_WITH_EYE_ANOMALIES 1 PSEUDOXANTHOMA_ELASTICUM-LIKE_SKIN_MANIFESTATIONS_WITH_EYE_ANOMALIES
CATARACT_14,_MULTIPLE_TYPES 1 CATARACT_14,_MULTIPLE_TYPES
CATARACT_1,_MULTIPLE_TYPES 1 CATARACT_1,_MULTIPLE_TYPES
Congenital_corneal_opacification,_sclerocornea 1 Congenital_corneal_opacification,_sclerocornea
Pseudohypoparathyroidism_Ia 1 Pseudohypoparathyroidism_Ia
PSEUDOPSEUDOHYPOPARATHYROIDISM 1 PSEUDOPSEUDOHYPOPARATHYROIDISM
Pseudohypoparathyroidism_Ic 1 Pseudohypoparathyroidism_Ic
Rod-cone_dystrophy 1 Rod-cone_dystrophy
Night_blindness,_congenital_stationary,_autosomal_dominant_3 1 Night_blindness,_congenital_stationary,_autosomal_dominant_3
Night_blindness,_congenital_stationary,_type_1G 1 Night_blindness,_congenital_stationary,_type_1G
Achromatopsia_4 1 Achromatopsia_4
Night_blindness,_congenital_stationary,_type_1H 1 Night_blindness,_congenital_stationary,_type_1H
Non-syndromic_retinitis_pigmentosa 1 Non-syndromic_retinitis_pigmentosa
Night_blindness,_congenital_stationary_(complete),_1E,_autosomal_recessive 1 Night_blindness,_congenital_stationary_(complete),_1E,_autosomal_recessive
Oguchi_disease-2 1 Oguchi_disease-2
Ceroid_lipofuscinosis,_neuronal,_11 1 Ceroid_lipofuscinosis,_neuronal,_11
Amyloidosis,_Finnish_type 1 Amyloidosis,_Finnish_type
Cone_dystrophy-3 1 Cone_dystrophy-3
Cone-rod_dystrophy_14 1 Cone-rod_dystrophy_14
Retinitis_pigmentosa_73 1 Retinitis_pigmentosa_73
Hermansky-Pudlak_syndrome_3 1 Hermansky-Pudlak_syndrome_3
Retinitis_pigmentosa_46 1 Retinitis_pigmentosa_46
Bardet-Biedl_syndrome_19 1 Bardet-Biedl_syndrome_19
Short-rib_thoracic_dysplasia_16_with_or_without_polydactyly 1 Short-rib_thoracic_dysplasia_16_with_or_without_polydactyly
Retinitis_pigmentosa_10 1 Retinitis_pigmentosa_10
Leber_cogenital_amaurosis_11 1 Leber_cogenital_amaurosis_11
Macular_dystrophy,_vitelliform,_4 1 Macular_dystrophy,_vitelliform,_4
Retinitis_pigmentosa_56 1 Retinitis_pigmentosa_56
Macular_dystrophy,_vitelliform,_5 1 Macular_dystrophy,_vitelliform,_5
Retinal_dystrophy_with_inner_retinal_dysfunction_and_ganglion_cell_abnormalities 1 Retinal_dystrophy_with_inner_retinal_dysfunction_and_ganglion_cell_abnormalities
BBYSS_syndrome 1 BBYSS_syndrome
Retinal_cone_dystrophy_3B 1 Retinal_cone_dystrophy_3B
Joubert_syndrome_23 1 Joubert_syndrome_23
Retinitis_pigmentosa_69 1 Retinitis_pigmentosa_69
Retinitis_pigmentosa_42 1 Retinitis_pigmentosa_42
Poretti-Boltshauser_syndrome 1 Poretti-Boltshauser_syndrome
Leber_congenital_amaurosis_5 1 Leber_congenital_amaurosis_5
Fish-eye_disease 1 Fish-eye_disease
Cataract_46,_juvenile-onset 1 Cataract_46,_juvenile-onset
Myopia,_high,_with_cataract_and_vitreoretinal_degeneration 1 Myopia,_high,_with_cataract_and_vitreoretinal_degeneration
Cataract_19,_multiple_types 1 Cataract_19,_multiple_types
Leber_congenital_amaurosis_14 1 Leber_congenital_amaurosis_14
Night_blindness,_congenital_stationary_(complete),_1F,_autosomal_recessive 1 Night_blindness,_congenital_stationary_(complete),_1F,_autosomal_recessive
Cataract_44 1 Cataract_44
Bardet-Biedl_syndrome_17 1 Bardet-Biedl_syndrome_17
Ayme-Gripp_syndrome 1 Ayme-Gripp_syndrome
Duane_retraction_syndrome_3 1 Duane_retraction_syndrome_3
Retinitis_pigmentosa_62 1 Retinitis_pigmentosa_62
Mannosidosis,_alpha-,_types_I_and_II 1 Mannosidosis,_alpha-,_types_I_and_II
Macular_dystrophy,_patterned,_3 1 Macular_dystrophy,_patterned,_3
Retinitis_pigmentosa_38 1 Retinitis_pigmentosa_38
Hereditary_motor_and_sensory_neuropathy_VIA 1 Hereditary_motor_and_sensory_neuropathy_VIA
Charcot-Marie-Tooth_disease,_axonal,_type_2A2B 1 Charcot-Marie-Tooth_disease,_axonal,_type_2A2B
NANOPHTHALMOS_2 1 NANOPHTHALMOS_2
Ceroid_lipofuscinosis,_neuronal,_7 1 Ceroid_lipofuscinosis,_neuronal,_7
Retinal_dystrophy_and_iris_coloboma_with_or_without_cataract 1 Retinal_dystrophy_and_iris_coloboma_with_or_without_cataract
COMMAD_syndrome 1 COMMAD_syndrome
WAARDENBURG_SYNDROME_TYPE_2_WITH_OCULAR_ALBINISM 1 WAARDENBURG_SYNDROME_TYPE_2_WITH_OCULAR_ALBINISM
Molybdenum_cofactor_deficiency_B 1 Molybdenum_cofactor_deficiency_B
ABETALIPOPROTEINEMIA 1 ABETALIPOPROTEINEMIA
Hyper-IgD_syndrome 1 Hyper-IgD_syndrome
Mevalonic_aciduria 1 Mevalonic_aciduria
EPSTEIN_SYNDROME 1 EPSTEIN_SYNDROME
USHER_SYNDROME_TYPE_1B 1 USHER_SYNDROME_TYPE_1B
Microphthalmia,_syndromic_1 1 Microphthalmia,_syndromic_1
Short_stature,_optic_nerve_atrophy,_and_Pelger-Huet_anomaly 1 Short_stature,_optic_nerve_atrophy,_and_Pelger-Huet_anomaly
Retinitis_pigmentosa_67 1 Retinitis_pigmentosa_67
NEUROFIBROMATOSIS,_TYPE_2 1 NEUROFIBROMATOSIS,_TYPE_2
ALAGILLE_SYNDROME_2 1 ALAGILLE_SYNDROME_2
JOUBERT_SYNDROME_TYPE_4 1 JOUBERT_SYNDROME_TYPE_4
SENIOR-LOKEN_SYNDROME_4 1 SENIOR-LOKEN_SYNDROME_4
Night_blindness,_congenital_stationary_(complete),_1A,_X-linked 1 Night_blindness,_congenital_stationary_(complete),_1A,_X-linked
Gyrate_atrophy_of_choroid_and_retina_with_or_without_ornithinemia 1 Gyrate_atrophy_of_choroid_and_retina_with_or_without_ornithinemia
Oculocutaneous_albinism 1 Oculocutaneous_albinism
Retinitis_pigmentosa_23 1 Retinitis_pigmentosa_23
Corneal_dystrophy,_posterior_polymorphous,_1 1 Corneal_dystrophy,_posterior_polymorphous,_1
HARP_syndrome 1 HARP_syndrome
PAPILLORENAL_SYNDROME 1 PAPILLORENAL_SYNDROME
Usher_syndrome,_type_1F 1 Usher_syndrome,_type_1F
Retinitis_pigmentosa_43 1 Retinitis_pigmentosa_43
Night_blindness,_congenital_stationary,_autosomal_dominant_2 1 Night_blindness,_congenital_stationary,_autosomal_dominant_2
Retinitis_pigmentosa-40 1 Retinitis_pigmentosa-40
Cone_dystrophy_4 1 Cone_dystrophy_4
Familial_Sturge-Weber_syndrome 1 Familial_Sturge-Weber_syndrome
Sturge-Weber_syndrome 1 Sturge-Weber_syndrome
Epithelial_recurrent_erosion_dystrophy 1 Epithelial_recurrent_erosion_dystrophy
Corneal_intraepithelial_dyskeratosis 1 Corneal_intraepithelial_dyskeratosis
Autoinflammation_with_arthritis_and_dyskeratosis 1 Autoinflammation_with_arthritis_and_dyskeratosis
Brittle_cornea_syndrome_2 1 Brittle_cornea_syndrome_2
Axenfeld-Rieger_syndrome 1 Axenfeld-Rieger_syndrome
Peroxisome_biogenesis_disorder_1A 1 Peroxisome_biogenesis_disorder_1A
PEROXISOME_BIOGENESIS_DISORDER_6B 1 PEROXISOME_BIOGENESIS_DISORDER_6B
PEROXISOME_BIOGENESIS_DISORDER_3B 1 PEROXISOME_BIOGENESIS_DISORDER_3B
PEROXISOME_BIOGENESIS_DISORDER_11B 1 PEROXISOME_BIOGENESIS_DISORDER_11B
Peroxisome_biogenesis_disorder_13A 1 Peroxisome_biogenesis_disorder_13A
PEROXISOME_BIOGENESIS_DISORDER_8B 1 PEROXISOME_BIOGENESIS_DISORDER_8B
Peroxisome_biogenesis_disorder_12A 1 Peroxisome_biogenesis_disorder_12A
PEROXISOME_BIOGENESIS_DISORDER_5B 1 PEROXISOME_BIOGENESIS_DISORDER_5B
PEROXISOME_BIOGENESIS_DISORDER_7B 1 PEROXISOME_BIOGENESIS_DISORDER_7B
Peroxisome_biogenesis_disorder_10A 1 Peroxisome_biogenesis_disorder_10A
Peroxisome_biogenesis_disorder_10B 1 Peroxisome_biogenesis_disorder_10B
PEROXISOME_BIOGENESIS_DISORDER_2B 1 PEROXISOME_BIOGENESIS_DISORDER_2B
PEROXISOME_BIOGENESIS_DISORDER_4B 1 PEROXISOME_BIOGENESIS_DISORDER_4B
RHIZOMELIC_CHONDRODYSPLASIA_PUNCTATA,_TYPE_1 1 RHIZOMELIC_CHONDRODYSPLASIA_PUNCTATA,_TYPE_1
CHIME_syndrome 1 CHIME_syndrome
Multiple_congenital_anomalies-hypotonia-seizures_syndrome_1 1 Multiple_congenital_anomalies-hypotonia-seizures_syndrome_1
Cone-rod_dystrophy_5 1 Cone-rod_dystrophy_5
Anterior_segment_dysgenesis_4 1 Anterior_segment_dysgenesis_4
Anterior_segment_dysgenesis_1,_multiple_subtypes 1 Anterior_segment_dysgenesis_1,_multiple_subtypes
CATARACT_11,_MULTIPLE_TYPES 1 CATARACT_11,_MULTIPLE_TYPES
Fleck_retina,_familial_benign 1 Fleck_retina,_familial_benign
Microcephaly_and_chorioretinopathy,_autosomal_recessive,_2 1 Microcephaly_and_chorioretinopathy,_autosomal_recessive,_2
CONGENITAL_DISORDER_OF_GLYCOSYLATION,_TYPE_Ia 1 CONGENITAL_DISORDER_OF_GLYCOSYLATION,_TYPE_Ia
Boucher-Neuhauser_syndrome 1 Boucher-Neuhauser_syndrome
Cone-rod_dystrophy_20 1 Cone-rod_dystrophy_20
Mitochondrial_recessive_ataxia_syndrome 1 Mitochondrial_recessive_ataxia_syndrome
Progressive_external_ophthalmoplegia,_autosomal_dominant_1 1 Progressive_external_ophthalmoplegia,_autosomal_dominant_1
Retinitis_pigmentosa_36 1 Retinitis_pigmentosa_36
Retinitis_pigmentosa_41 1 Retinitis_pigmentosa_41
Retinitis_pigmentosa_18 1 Retinitis_pigmentosa_18
Retinitis_pigmentosa_11 1 Retinitis_pigmentosa_11
Retinitis_pigmentosa_70 1 Retinitis_pigmentosa_70
Retinitis_pigmentosa_60 1 Retinitis_pigmentosa_60
Retinitis_pigmentosa_13 1 Retinitis_pigmentosa_13
Glaucoma 1 Glaucoma
Retinitis_pigmentosa_7 1 Retinitis_pigmentosa_7
ARTS_SYNDROME 1 ARTS_SYNDROME
Verheij_syndrome 1 Verheij_syndrome
Cone-rod_dystrophy_18 1 Cone-rod_dystrophy_18
Microphthalmia,_syndromic_12 1 Microphthalmia,_syndromic_12
Cone-rod_dystrophy_11 1 Cone-rod_dystrophy_11
Retinitis_pigmentosa_66 1 Retinitis_pigmentosa_66
Retinal_dystrophy,_iris_coloboma,_and_comedogenic_acne_syndrome 1 Retinal_dystrophy,_iris_coloboma,_and_comedogenic_acne_syndrome
Leber_congenital_amaurosis_12 1 Leber_congenital_amaurosis_12
Retinal_dystrophy,_juvenile_cataracts,_and_short_stature_syndrome 1 Retinal_dystrophy,_juvenile_cataracts,_and_short_stature_syndrome
Fundus_albipunctatus 1 Fundus_albipunctatus
ROTHMUND-THOMSON_SYNDROME 1 ROTHMUND-THOMSON_SYNDROME
Retinitis_pigmentosa_44 1 Retinitis_pigmentosa_44
Cataract_41 1 Cataract_41
Neonatal/Infancy-Onset_Diabetes,_Congenital_Sensorineural_Deafness,_and_Congenital_Cataracts_Syndrome 1 Neonatal/Infancy-Onset_Diabetes,_Congenital_Sensorineural_Deafness,_and_Congenital_Cataracts_Syndrome
SHORT-RIB_THORACIC_DYSPLASIA_5_WITH_OR_WITHOUT_POLYDACTYLY 1 SHORT-RIB_THORACIC_DYSPLASIA_5_WITH_OR_WITHOUT_POLYDACTYLY
Craniofacial_anomalies_and_anterior_segment_dysgenesis_syndrome 1 Craniofacial_anomalies_and_anterior_segment_dysgenesis_syndrome
Keratoconus_1 1 Keratoconus_1
Microphthalmia,_syndromic_11 1 Microphthalmia,_syndromic_11
Usher_syndrome,_type_2A 1 Usher_syndrome,_type_2A
Usher_syndrome,_type_1G 1 Usher_syndrome,_type_1G
Usher_syndrome,_type_1C 1 Usher_syndrome,_type_1C
Cataract_43 1 Cataract_43
Kaufman_oculocerebrofacial_syndrome 1 Kaufman_oculocerebrofacial_syndrome
Microcephaly_and_chorioretinopathy,_autosomal_recessive,_1 1 Microcephaly_and_chorioretinopathy,_autosomal_recessive,_1
Microcephaly_and_chorioretinopathy,_autosomal_recessive,_3 1 Microcephaly_and_chorioretinopathy,_autosomal_recessive,_3
Cortical_dysplasia,_complex,_with_other_brain_malformations_7 1 Cortical_dysplasia,_complex,_with_other_brain_malformations_7
Retinal_dystrophy_and_obesity 1 Retinal_dystrophy_and_obesity
Cone-rod_dystrophy_19 1 Cone-rod_dystrophy_19
Night_blindness,_congenital_stationary_(complete),_1C,_autosomal_recessive 1 Night_blindness,_congenital_stationary_(complete),_1C,_autosomal_recessive
Hypogammaglobulinemia,_short_stature_with_microcephaly,_cataract,_and_inner_retinal_dysfunction 1 Hypogammaglobulinemia,_short_stature_with_microcephaly,_cataract,_and_inner_retinal_dysfunction
Aniridia_3 1 Aniridia_3
Senior-Loken_syndrome_9 1 Senior-Loken_syndrome_9
ADULT_SYNDROME 1 ADULT_SYNDROME
Retinitis_pigmentosa_31 1 Retinitis_pigmentosa_31
NANOPHTHALMOS 1 NANOPHTHALMOS
Joubert_syndrome_20 1 Joubert_syndrome_20
Joubert_syndrome_16 1 Joubert_syndrome_16
MOHR-TRANEBJAERG_SYNDROME 1 MOHR-TRANEBJAERG_SYNDROME
Sveinsson_chorioretinal_atrophy 1 Sveinsson_chorioretinal_atrophy
Corneal_dystrophy,_Fuchs_endothelial,_3 1 Corneal_dystrophy,_Fuchs_endothelial,_3
Corneal_dystrophy,_gelatinous_drop-like 1 Corneal_dystrophy,_gelatinous_drop-like
Retinitis_pigmentosa_33 1 Retinitis_pigmentosa_33
Microphthalmia_with_limb_anomalies 1 Microphthalmia_with_limb_anomalies
Retinitis_pigmentosa_68 1 Retinitis_pigmentosa_68
CORNEAL_DYSTROPHY,_FUCHS_ENDOTHELIAL,_4 1 CORNEAL_DYSTROPHY,_FUCHS_ENDOTHELIAL,_4
Albinism,_oculocutaneous,_type_IV 1 Albinism,_oculocutaneous,_type_IV
Myopia_24,_autosomal_dominant 1 Myopia_24,_autosomal_dominant
CONGENITAL_CATARACTS,_HEARING_LOSS,_AND_NEURODEGENERATION 1 CONGENITAL_CATARACTS,_HEARING_LOSS,_AND_NEURODEGENERATION
GLUT1_deficiency_syndrome_1,_infantile_onset,_severe 1 GLUT1_deficiency_syndrome_1,_infantile_onset,_severe
Neuropathy,_hereditary_motor_and_sensory,_type_VIB 1 Neuropathy,_hereditary_motor_and_sensory,_type_VIB
SLC24A1-related_night_blindness,_congenital_stationary_ 1 SLC24A1-related_night_blindness,_congenital_stationary_
Cataract_47,_juvenile,_with_microcornea 1 Cataract_47,_juvenile,_with_microcornea
MAC_spectrum 1 MAC_spectrum
HOLOPROSENCEPHALY_2 1 HOLOPROSENCEPHALY_2
Cataract_45 1 Cataract_45
MARINESCO-SJOGREN_SYNDROME 1 MARINESCO-SJOGREN_SYNDROME
Cone-rod_dystrophy_7 1 Cone-rod_dystrophy_7
Bothnia_retinal_dystrophy 1 Bothnia_retinal_dystrophy
Newfoundland_rod-cone_dystrophy 1 Newfoundland_rod-cone_dystrophy
Retinitis_pigmentosa_1 1 Retinitis_pigmentosa_1
Occult_macular_dystrophy 1 Occult_macular_dystrophy
Cone_dystrophy 1 Cone_dystrophy
Retinitis_pigmentosa_2 1 Retinitis_pigmentosa_2
Retinitis_pigmentosa_9 1 Retinitis_pigmentosa_9
Retinitis_pigmentosa_3 1 Retinitis_pigmentosa_3
Macular_degeneration,_X-linked_atrophic 1 Macular_degeneration,_X-linked_atrophic
Ribose_5-phosphate_isomerase_deficiency 1 Ribose_5-phosphate_isomerase_deficiency
Ocular_coloboma 1 Ocular_coloboma
Oguchi_disease-1 1 Oguchi_disease-1
Retinitis_pigmentosa_47 1 Retinitis_pigmentosa_47
Charcot-Marie-Tooth_disease,_type_4B2 1 Charcot-Marie-Tooth_disease,_type_4B2
MYOPIA_6 1 MYOPIA_6
Syndromic_congenital_glaucoma 1 Syndromic_congenital_glaucoma
Spastic_paraplegia_7,_autosomal_recessive 1 Spastic_paraplegia_7,_autosomal_recessive
RENAL_TUBULAR_ACIDOSIS,_PROXIMAL,_WITH_OCULAR_ABNORMALITIES_AND_INTELLECTUAL_DEVELOPMENTAL_DISORDER 1 RENAL_TUBULAR_ACIDOSIS,_PROXIMAL,_WITH_OCULAR_ABNORMALITIES_AND_INTELLECTUAL_DEVELOPMENTAL_DISORDER
Pierson_syndrome 1 Pierson_syndrome
Nephrotic_syndrome,_type_5,_with_or_without_ocular_abnormalities 1 Nephrotic_syndrome,_type_5,_with_or_without_ocular_abnormalities
Brittle_cornea_syndrome_1 1 Brittle_cornea_syndrome_1
ABRUZZO-ERICKSON_SYNDROME 1 ABRUZZO-ERICKSON_SYNDROME
Deafness_and_myopia 1 Deafness_and_myopia
Congenital_glaucoma 1 Congenital_glaucoma
Multisystemic_smooth_muscle_dysfunction_syndrome 1 Multisystemic_smooth_muscle_dysfunction_syndrome
Spondylometaphyseal_dysplasia_associated_with_corneal_dystrophy_and_developmental_delay_(SMDCD) 1 Spondylometaphyseal_dysplasia_associated_with_corneal_dystrophy_and_developmental_delay_(SMDCD)
Optic_atrophy_5 1 Optic_atrophy_5
Familial_Dysautonomia 1 Familial_Dysautonomia
Neuropathy,_hereditary_sensory_and_autonomic,_type_VI 1 Neuropathy,_hereditary_sensory_and_autonomic,_type_VI
Brain_small_vessel_disease_with_or_without_ocular_anomalies 1 Brain_small_vessel_disease_with_or_without_ocular_anomalies
Dihydropyrimidine_dehydrogenase_deficiency 1 Dihydropyrimidine_dehydrogenase_deficiency
Central_areolar_choroidal_dystrophy 1 Central_areolar_choroidal_dystrophy
North_Carolina_macular_dystrophy 1 North_Carolina_macular_dystrophy
Neuropathy,_Ataxia,_Retinitis_Pigmentosa_syndrome_ 1 Neuropathy,_Ataxia,_Retinitis_Pigmentosa_syndrome_
SHORT-RIB_THORACIC_DYSPLASIA_6_WITH_OR_WITHOUT_POLYDACTYLY 1 SHORT-RIB_THORACIC_DYSPLASIA_6_WITH_OR_WITHOUT_POLYDACTYLY
Optic_atrophy_plus_syndrome 1 Optic_atrophy_plus_syndrome
Behr_syndrome 1 Behr_syndrome
Retinitis_pigmentosa_35 1 Retinitis_pigmentosa_35
SOLITARY_MEDIAN_MAXILLARY_CENTRAL_INCISOR 1 SOLITARY_MEDIAN_MAXILLARY_CENTRAL_INCISOR
Lattice_corneal_dystrophy_type_1 1 Lattice_corneal_dystrophy_type_1
Visual_impairment_and_progressive_phthisis_bulbi 1 Visual_impairment_and_progressive_phthisis_bulbi
Colobomatous_microphthalmia 1 Colobomatous_microphthalmia
Ocular_coloboma,_microphthalmia,_and_cataract 1 Ocular_coloboma,_microphthalmia,_and_cataract
Syndromic_congenital_sodium_diarrhea 1 Syndromic_congenital_sodium_diarrhea
USHER_SYNDROME 1 USHER_SYNDROME
Focal_Segmental_Glomerulosclerosis_with_Duane_Retraction_Syndrome 1 Focal_Segmental_Glomerulosclerosis_with_Duane_Retraction_Syndrome
Posterior_Polymorphous_Corneal_Dystrophy_4 1 Posterior_Polymorphous_Corneal_Dystrophy_4
Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_9 1 Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_9
SCHWARTZ-JAMPEL_SYNDROME 1 SCHWARTZ-JAMPEL_SYNDROME
Atypical_Usher_syndrome 1 Atypical_Usher_syndrome
Developmental_delays,_cataracts,_and_craniofacial_anomalies 1 Developmental_delays,_cataracts,_and_craniofacial_anomalies
Myopia 1 Myopia
ROSAH_syndrome 1 ROSAH_syndrome
MRCS_syndrome 1 MRCS_syndrome
High_hyperopia_ 1 High_hyperopia_
MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_CONGENITAL_WITH_BRAIN_AND_EYE_ANOMALIES_TYPE_A4 1 MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_CONGENITAL_WITH_BRAIN_AND_EYE_ANOMALIES_TYPE_A4
MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_CONGENITAL_WITH_INTELLECTUAL_DEVELOPMENTAL_DISORDER_TYPE_B3 1 MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_CONGENITAL_WITH_INTELLECTUAL_DEVELOPMENTAL_DISORDER_TYPE_B3
Leukoencephalopathy_with_vanishing_white_matter 1 Leukoencephalopathy_with_vanishing_white_matter
Cone_dystrophy_with_supernormal_rod_responses 1 Cone_dystrophy_with_supernormal_rod_responses
Non-syndromic_retinitis_pigmenta 1 Non-syndromic_retinitis_pigmenta
Senior-Loken_syndrome 1 Senior-Loken_syndrome
Autosomal_dominant_retinal_dystrophy 1 Autosomal_dominant_retinal_dystrophy
Congenital_cataract_(monoallelic,_uncertain) 1 Congenital_cataract_(monoallelic,_uncertain)
Achromatopsia_3_(biallelic,_activating) 1 Achromatopsia_3_(biallelic,_activating)
CATARACT_22,_MULTIPLE_TYPES_(monoallelic,_uncertain) 1 CATARACT_22,_MULTIPLE_TYPES_(monoallelic,_uncertain)
Gillespie_Syndrome_(biallelic,_loss_of_function) 1 Gillespie_Syndrome_(biallelic,_loss_of_function)
SPONDYLOEPIPHYSEAL_DYSPLASIA_CONGENITA_(biallelic,_all_missense/in_frame) 1 SPONDYLOEPIPHYSEAL_DYSPLASIA_CONGENITA_(biallelic,_all_missense/in_frame)
CATARACT_5,_MULTIPLE_TYPES_(biallelic,_uncertain) 1 CATARACT_5,_MULTIPLE_TYPES_(biallelic,_uncertain)
Duane_retraction_syndrome_3_(monoallelic,_dominant_negative) 1 Duane_retraction_syndrome_3_(monoallelic,_dominant_negative)
CATARACT_12,_MULTIPLE_TYPES_(biallelic,_all_missense/in_frame) 1 CATARACT_12,_MULTIPLE_TYPES_(biallelic,_all_missense/in_frame)
Cerebellar_atrophy,_visual_impairment,_and_psychomotor_retardation_(monoallelic,_dominant_negative) 1 Cerebellar_atrophy,_visual_impairment,_and_psychomotor_retardation_(monoallelic,_dominant_negative)
MICROPHTHALMIA,_SYNDROMIC_14_(monoallelic,_activating) 1 MICROPHTHALMIA,_SYNDROMIC_14_(monoallelic,_activating)
Cataract_33,_multiple_types_(monoallelic,_uncertain) 1 Cataract_33,_multiple_types_(monoallelic,_uncertain)

Gene sets file:

gene2phenotype-map.txt

Format: map

Web label: gene2phenotype

Web label: key| (|count|): |desc

Files

Filename Size md5
CancerG2P_9_9_2024.csv 40.78 KB 59ff39474611412a667078c6e9f60cb2
CardiacG2P_2024-08-28.csv 146.22 KB a2efcdc9d134907ab08c884713cc9261
DDG2P_2024-08-28.csv 1.04 MB fe340139e731a5cd496a0364084dbeba
EyeG2P_2024-08-28.csv 314.01 KB fb05158484439edb750671686fb59d3d
SkeletalG2P_2024-08-28.csv 192.88 KB 7b1037695ec6aca550776b8a347fb6c3
SkinG2P_2024-08-28.csv 245.83 KB 19a1ac669865fc3bca2e91fb05e86721
dataprep1.py 1.89 KB 25997ecfe0aafe2e74fb1f67498daa10
gene2phenotype-map.txt 160.88 KB 69818d6f071625ed0af8614e64a540f3
gene2phenotype-mapnames.txt 266.26 KB 0cc7ae167dabc0b6ca6d2483553e27e0
gene2phenotype.csv 1.92 MB 17149db52e7ec4fcefe74f580b46dfc1
genomic_resource.yaml 2.17 KB 1f237f6be7407ee204212be184e7f138
statistics/