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#619147 - LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
Cytogenetic locations: MT2A
Gene summaries Genetic tests Medical literature
#618952 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46; COXPD46
Cytogenetic locations: 26741492
#618835 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
Cytogenetic locations: 615678
#618243 - MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22; MC1DN22
Cytogenetic locations: 612003
#618239 - MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17; MC1DN17
Cytogenetic locations: -
*617209 - GLUTAMINYL-tRNA AMIDOTRANSFERASE SUBUNIT QRSL1; QRSL1
*614843 - ODONTOGENIC AMELOBLAST-ASSOCIATED PROTEIN; ODAM
Cytogenetic locations: 14647039
*612392 - NADH DEHYDROGENASE (UBIQUINONE) COMPLEX I, ASSEMBLY FACTOR 6; NDUFAF6
*611985 - MITOCHONDRIAL RIBOSOMAL PROTEIN S23; MRPS23
*611589 - PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 5; PNPLA5
Cytogenetic locations: 16799181
#610678 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4; COXPD4
Cytogenetic locations: 17160893
*609584 - L-2-HYDROXYGLUTARATE DEHYDROGENASE; L2HGDH
Cytogenetic locations: 180440
*609567 - PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 3; PNPLA3
Cytogenetic locations: 146770
*609059 - PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 2; PNPLA2
Cytogenetic locations: 15550674
*603835 - NADH-UBIQUINONE OXIDOREDUCTASE SUBUNIT A10; NDUFA10
*602389 - Tu TRANSLATION ELONGATION FACTOR, MITOCHONDRIAL; TUFM
Cytogenetic locations: 21051640
*601421 - LYSYL-tRNA SYNTHETASE 1; KARS1
#301021 - MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30; MC1DN30
#300952 - LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3; LSDMCA3
Cytogenetic locations: 25772934
*300647 - APC MEMBRANE RECRUITMENT PROTEIN 1; AMER1
Cytogenetic locations: 19383023
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