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#620774 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114; DEE114
Gene summaries Genetic tests Medical literature
*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
#620674 - NEUTROPENIA, SEVERE CONGENITAL, 11, AUTOSOMAL DOMINANT; SCN11
#620670 - IMMUNODEFICIENCY, COMMON VARIABLE, 15; CVID15
#620603 - IMMUNODEFICIENCY 114, FOLATE-RESPONSIVE; IMD114
#620601 - GARG-MISHRA PROGEROID SYNDROME; GMPGS
Cytogenetic locations: Etv1
#620465 - EPILEPSY, EARLY-ONSET, 3, WITH OR WITHOUT DEVELOPMENTAL DELAY; EPEO3
Cytogenetic locations: 16p13.3
*620424 - ZYGOTE ARREST 1-LIKE; ZAR1L
Cytogenetic locations: 121015
#620384 - AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT 2; AUNA2
Cytogenetic locations: ###5##
#620372 - HYPERSULFATURIA; HYSULF
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
*620338 - SOLUTE CARRIER FAMILY 9, MEMBER C2; SLC9C2
Cytogenetic locations: #########MR#
*620324 - SOLUTE CARRIER FAMILY 15, MEMBER 5; SLC15A5
Cytogenetic locations: ###########
*620308 - MAJOR FACILITATOR SUPERFAMILY DOMAIN-CONTAINING PROTEIN 3; MFSD3
Cytogenetic locations: ########q#w#
*620298 - SOLUTE CARRIER FAMILY 35, MEMBER A5; SLC35A5
Cytogenetic locations: Cd47
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