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#620654 - THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES; THC11
Gene summaries Genetic tests Medical literature
*620566 - CLAUDIN 22; CLDN22
#620514 - IMMUNE DYSREGULATION, AUTOIMMUNITY, AND AUTOINFLAMMATION; IDAA
Cytogenetic locations: `#####
#620475 - THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY; THC8
Cytogenetic locations: ##H###
#620371 - NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY; NEDIHSS
Cytogenetic locations: 601613
#619854 - NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; NEDHISB
Cytogenetic locations: 603432
#619538 - CEREBRAL CAVERNOUS MALFORMATIONS 4; CCM4
#619424 - MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12
Cytogenetic locations: #e####
#619365 - MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4; MMIHS4
Cytogenetic locations: #[K###
#619328 - LEUKODYSTROPHY, HYPOMYELINATING, 22; HLD22
#619281 - IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B
Cytogenetic locations: 1p36.22
#619110 - ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
Cytogenetic locations: 619536
#619093 - DEAFNESS, AUTOSOMAL RECESSIVE 116; DFNB116
Cytogenetic locations: 0#####
#618987 - IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C
Cytogenetic locations: HCHGQ3
#618986 - IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B
#618824 - BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
#618727 - ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB
Cytogenetic locations: #6####
#618307 - EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4; EV4
Cytogenetic locations: ###c##
#618174 - CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9; CDCBM9
Cytogenetic locations: #<#T##
#617751 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 48; MRD48
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