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#620774 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114; DEE114
Gene summaries Genetic tests Medical literature
#620755 - GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 12; GEFSP12
#620603 - IMMUNODEFICIENCY 114, FOLATE-RESPONSIVE; IMD114
#620456 - DYSTONIA 22, ADULT-ONSET; DYT22AO
Cytogenetic locations: 610173
#620453 - DYSTONIA 22, JUVENILE-ONSET; DYT22JO
#620372 - HYPERSULFATURIA; HYSULF
Cytogenetic locations: @#{###
#619903 - PERIPHERAL MOTOR NEUROPATHY, CHILDHOOD-ONSET, BIOTIN-RESPONSIVE; COMNB
Cytogenetic locations: ##U###
#619881 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 102; DEE102
#619491 - PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK24
Cytogenetic locations: 609875
#619484 - CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6
Cytogenetic locations: #Y####
#619481 - BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2
#619256 - HYPERCHOLANEMIA, FAMILIAL, 2; FHCA2
Cytogenetic locations: 617989
*619246 - SPEXIN HORMONE; SPX
Cytogenetic locations: ###}##
#618973 - SODIUM-DEPENDENT MULTIVITAMIN TRANSPORTER DEFICIENCY; SMVTD
#618972 - MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
#618940 - OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2
Cytogenetic locations: 0#####
#618811 - MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
Cytogenetic locations: ######
#618760 - NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM
#618721 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
Cytogenetic locations: 605956
*618582 - SOLUTE CARRIER FAMILY 10 (SODIUM/BILE ACID COTRANSPORTER FAMILY), MEMBER A5; SLC10A5
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