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#620763 - CORNEAL DYSTROPHY, LISCH EPITHELIAL; LECD
Gene summaries Genetic tests Medical literature
#620690 - DEVELOPMENTAL DYSPLASIA OF THE HIP 3; DDH3
#620679 - LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 8; FPLD8
#620632 - IMMUNODEFICIENCY 115 WITH AUTOINFLAMMATION; IMD115
#620502 - NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND VARIABLE COGNITIVE ABNORMALITIES; NEDLC
Cytogenetic locations: ##V###
#620376 - AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS; SAIDV
Cytogenetic locations: #####
#620294 - CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 9; CHTD9
#620111 - CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1J; CMT1J
Cytogenetic locations: #5#@##
#620080 - NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 10; HMND10
Cytogenetic locations: #r####
#619955 - DWORSCHAK-PUNETHA NEURODEVELOPMENTAL SYNDROME; DWOPNED
#619931 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 76; MRT76
#619927 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 67; MRD67
#619817 - EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB6
#619816 - EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A
#619814 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101
Cytogenetic locations: #>####
*619794 - VON WILLEBRAND FACTOR C DOMAIN-CONTAINING PROTEIN 2-LIKE; VWC2L
#619752 - HYPER-IgE SYNDROME 4A, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS; HIES4A
#619751 - STUVE-WIEDEMANN SYNDROME 2; STWS2
Cytogenetic locations: ##o###
#619750 - IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
#619580 - NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS
Cytogenetic locations: 137161
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