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#620757 - THROMBOCYTOPENIA 12 WITH OR WITHOUT MYOPATHY; THC12
Gene summaries Genetic tests Medical literature
#620705 - SPERMATOGENIC FAILURE 89; SPGF89
#620647 - PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 6; PEOB6
#620576 - OTOSCLEROSIS 11; OTSC11
#620546 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIbb; CDG2BB
Cytogenetic locations: ## ###
*620391 - POLY(ADP-RIBOSE) POLYMERASE FAMILY, MEMBER 16; PARP16
#620372 - HYPERSULFATURIA; HYSULF
Cytogenetic locations: @#{###
#620364 - COMBINED LOW LDL AND FIBRINOGEN; CLDLFIB
#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
#620269 - LEUKODYSTROPHY, HYPOMYELINATING, 26, WITH CHONDRODYSPLASIA; HLD26
Cytogenetic locations: p#####
#620240 - DEVELOPMENTAL DELAY WITH HYPOTONIA, MYOPATHY, AND BRAIN ABNORMALITIES; DEDHMB
*620239 - BETA-1,3-GALACTOSYLTRANSFERASE 9; B3GALT9
#620085 - HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2; HUMOP2
#620056 - POLYCYSTIC KIDNEY DISEASE 7; PKD7
Cytogenetic locations: ra###
#620044 - BONE MARROW FAILURE AND DIABETES MELLITUS SYNDROME; BMFDMS
#620040 - DYSKERATOSIS CONGENITA, DIGENIC; DKCD
#620032 - CILIARY DYSKINESIA, PRIMARY, 48, WITHOUT SITUS INVERSUS; CILD48
#619971 - NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY; NEDEBA
Cytogenetic locations: ######
#619970 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 104; DEE104
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