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#620745 - DEAFNESS, AUTOSOMAL RECESSIVE 123; DFNB123
Gene summaries Genetic tests Medical literature
#620679 - LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 8; FPLD8
#620668 - IMMUNODEFICIENCY 117; IMD117
#620654 - THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES; THC11
#620651 - DIABETES, DEAFNESS, DEVELOPMENTAL DELAY, AND SHORT STATURE SYNDROME; DDDS
*620608 - TESTIS-EXPRESSED GENE 264; TEX264
#620514 - IMMUNE DYSREGULATION, AUTOIMMUNITY, AND AUTOINFLAMMATION; IDAA
Cytogenetic locations: `#####
#620481 - AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL, 2; CAMT2
Cytogenetic locations: KLHL24
#620478 - THROMBOCYTOPENIA 9; THC9
#620376 - AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS; SAIDV
Cytogenetic locations: #####
#620371 - NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY; NEDIHSS
Cytogenetic locations: 601613
#620156 - CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 11; CDCBM11
Cytogenetic locations: 14q32.13
#620111 - CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1J; CMT1J
Cytogenetic locations: #5#@##
#619981 - BRADDOCK-CAREY SYNDROME 2; BRDCS2
Cytogenetic locations: `kH###
#619977 - MACULAR DYSTROPHY, RETINAL, 4; MCDR4
Cytogenetic locations: ######
#619910 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 66; MRD66
#619854 - NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; NEDHISB
Cytogenetic locations: 603432
#619836 - HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, INTERMEDIATE
#619817 - EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB6
#619804 - DEAFNESS, AUTOSOMAL DOMINANT 82; DFNA82
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