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OMIM ID
252010
OMIM term:
MITOCHONDRIAL COMPLEX I DEFICIENCY
Alternative terms:
NADH:Q(1) OXIDOREDUCTASE DEFICIENCY
NADH-COENZYME Q REDUCTASE DEFICIENCY
MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF
(∗) Location:
11q13.2 11q24.2 14q12 15q15.1 18p11.22 19p13.3 1q23.3 20p12.1 2q33.1 2q33.3 3p21.31 5p15.33 5q11.2 5q12.1 6q16.1 Xq24
(†) Associated OMIM genes:
C20ORF7
FOXRED1
NDUFA1
NDUFA11
NDUFAF1
NDUFAF2
NDUFAF3
NDUFAF4
NDUFB3
NDUFS1
NDUFS2
NDUFS4
NDUFS6
NDUFV1
NDUFV2
NUBPL
(‡) Associated MGI genes:
Ndufs6
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Zebrafish
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