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#620784 - NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY; NEDOA
Gene summaries Genetic tests Medical literature
#620783 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 115; DEE115
#620757 - THROMBOCYTOPENIA 12 WITH OR WITHOUT MYOPATHY; THC12
*620749 - ZINC FINGER PROTEIN 438; ZNF438
#620748 - MEGALENCEPHALY-POLYDACTYLY SYNDROME; MPAPA
*620737 - COENZYME Q10B; COQ10B
*620736 - COENZYME Q10A; COQ10A
#620732 - NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES; NEDMSB
*620720 - ZINC FINGER PROTEIN 549; ZNF549
#620712 - POLYDACTYLY-MACROCEPHALY SYNDROME; PDMCS
#620711 - LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED; LENCEP
#620705 - SPERMATOGENIC FAILURE 89; SPGF89
#620704 - ENCEPHALOPATHY, PORPHYRIA-RELATED; ENCEP
#620700 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81; MRT81
#620699 - MAPLE SYRUP URINE DISEASE, TYPE II; MSUD2
*620695 - NOTOCHORD HOMEOBOX; NOTO
#620683 - LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9; FPLD9
#620681 - MYOCLONIC EPILEPSY OF LAFORA 2; MELF2
#620680 - LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 5; CGL5
#620679 - LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 8; FPLD8
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