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#620784 - NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY; NEDOA
Gene summaries Genetic tests Medical literature
#620783 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 115; DEE115
#620774 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114; DEE114
#620772 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 113; DEE113
#620763 - CORNEAL DYSTROPHY, LISCH EPITHELIAL; LECD
*620758 - TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 23B; TIMM23B
#620755 - GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 12; GEFSP12
*620754 - PRELI DOMAIN-CONTAINING PROTEIN 3B; PRELID3B
*620751 - RETROTRANSPOSON GAG-LIKE 10; RTL10
*620750 - PRELI DOMAIN-CONTAINING PROTEIN 2; PRELID2
#620746 - NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES; NEDHBA
#620745 - DEAFNESS, AUTOSOMAL RECESSIVE 123; DFNB123
*620742 - INTRAFLAGELLAR TRANSPORT 70B; IFT70B
*620741 - INTRAFLAGELLAR TRANSPORT 70A; IFT70A
#620732 - NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES; NEDMSB
#620729 - HYPERFERRITINEMIA; HRFT
#620719 - NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM; NEDMSF
#620718 - OROFACIODIGITAL SYNDROME XX; OFD20
#620715 - BLEEDING DISORDER, VASCULAR-TYPE; BDVAS
*620702 - MITOCHONDRIAL CALCIUM UNIPORTER, DOMINANT-NEGATIVE SUBUNIT BETA; MCUB
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