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#268130 - REVESZ SYNDROME
Cytogenetic locations: 18252230
Gene summaries Genetic tests Medical literature
#210100 - BETA-AMINOISOBUTYRIC ACIDURIA; BAIBA
Cytogenetic locations: pseudogene
#201470 - ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF; ACADSD
Cytogenetic locations: 11405468
#619272 - MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
Cytogenetic locations: 609170
#616299 - LIPOYLTRANSFERASE 1 DEFICIENCY; LIPT1D
Cytogenetic locations: 24256811
*609014 - 3-@METHYLCROTONYL-CoA CARBOXYLASE 2; MCCC2
Cytogenetic locations: 600694
#248360 - MALONYL-CoA DECARBOXYLASE DEFICIENCY
Cytogenetic locations: 603385
*610284 - LIPOYLTRANSFERASE 1; LIPT1
#613161 - BETA-UREIDOPROPIONASE DEFICIENCY; UPB1D
Cytogenetic locations: 176261
#619057 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
Cytogenetic locations: 36450274
*609010 - 3-@METHYLCROTONYL-CoA CARBOXYLASE 1; MCCC1
Cytogenetic locations: 17968484
*606885 - ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS
Cytogenetic locations: 18054510
#614111 - PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY; PDHBD
Cytogenetic locations: 603332
*601002 - GLUTATHIONE SYNTHETASE; GSS
Cytogenetic locations: 18825653
*603359 - NADH-UBIQUINONE OXIDOREDUCTASE SUBUNIT A8; NDUFA8
Cytogenetic locations: 32385911
*615787 - NAD KINASE 2, MITOCHONDRIAL; NADK2
Cytogenetic locations: 618568
*614918 - PENTATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 3; PTCD3
#613990 - DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3; DKCA3
Cytogenetic locations: 18669893
#210210 - 3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY; MCC2D
#610090 - PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY; PNPOD
Cytogenetic locations: 616646
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