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#620774 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114; DEE114
Gene summaries Genetic tests Medical literature
#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
#620746 - NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES; NEDHBA
*620702 - MITOCHONDRIAL CALCIUM UNIPORTER, DOMINANT-NEGATIVE SUBUNIT BETA; MCUB
#620687 - MOYAMOYA DISEASE 7; MYMY7
#620603 - IMMUNODEFICIENCY 114, FOLATE-RESPONSIVE; IMD114
#620601 - GARG-MISHRA PROGEROID SYNDROME; GMPGS
Cytogenetic locations: Etv1
#620537 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 112; DEE112
Cytogenetic locations: 609640
#620512 - SPASTIC PARAPLEGIA 18A, AUTOSOMAL DOMINANT; SPG18A
Cytogenetic locations: P#####
#620501 - ZIEGLER-HUANG SYNDROME; ZHS
Cytogenetic locations: #####
#620465 - EPILEPSY, EARLY-ONSET, 3, WITH OR WITHOUT DEVELOPMENTAL DELAY; EPEO3
Cytogenetic locations: 16p13.3
#620448 - MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 4, REMITTING; MLC4
Cytogenetic locations: ##=E##
#620372 - HYPERSULFATURIA; HYSULF
Cytogenetic locations: @#{###
#620369 - CONGENITAL MYOPATHY 22B, SEVERE FETAL; CMYP22B
Cytogenetic locations: ######
#620366 - OSTEOPETROSIS, AUTOSOMAL RECESSIVE 9; OPTB9
#620359 - MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 7; MC5DN7
Cytogenetic locations: #Z####
#620358 - MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4A; MC5DN4A
Cytogenetic locations: between
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