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#620732 - NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES; NEDMSB
Gene summaries Genetic tests Medical literature
#620729 - HYPERFERRITINEMIA; HRFT
#620712 - POLYDACTYLY-MACROCEPHALY SYNDROME; PDMCS
#620690 - DEVELOPMENTAL DYSPLASIA OF THE HIP 3; DDH3
#620688 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 74; MRD74
#620679 - LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 8; FPLD8
#620674 - NEUTROPENIA, SEVERE CONGENITAL, 11, AUTOSOMAL DOMINANT; SCN11
#620670 - IMMUNODEFICIENCY, COMMON VARIABLE, 15; CVID15
#620663 - SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE; SEMDGC
#620662 - HOXHA-ALIU SYNDROME; HXAL
#620654 - THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES; THC11
#620568 - CORNELIA DE LANGE SYNDROME 6; CDLS6
#620565 - IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION; IMD113
#620548 - PREMATURE OVARIAN FAILURE 22; POF22
Cytogenetic locations: -
#620547 - SPERMATOGENIC FAILURE 88; SPGF88
#620542 - NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 10; HMNR10
#620540 - DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY; DEVEP
Cytogenetic locations: q#m##
#620538 - SPASTIC PARAPLEGIA 91, AUTOSOMAL DOMINANT, WITH OR WITHOUT CEREBELLAR ATAXIA; SPG91
#620536 - ALPORT SYNDROME 3B, AUTOSOMAL RECESSIVE; ATS3B
Cytogenetic locations: ###x##
#620534 - NEUTROPENIA, SEVERE CONGENITAL, 10, AUTOSOMAL RECESSIVE; SCN10
Cytogenetic locations: ######
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