All diseases

2 entries on 1 page. Showing entries 1 - 2.

ID     

AscendingAbbreviation     

Name     

OMIM ID     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00011 252010 Mitochondrial complex I deficiency, 252010 (3) 252010 0 0 FOXRED1, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-TN, NDUFA1, NDUFA11, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, 7 more - -
00574 MC1DN10 618233 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10; MC1DN10 618233 0 0 NDUFAF2 - Mitochondrial complex I deficiency nuclear type 10 (MC1DN10) is caused by homozygous mutation in the NDUFAF2 gene (609653) on chromosome 5q12. For a discussion of genetic heterogeneity of mitochondrial complex I deficiency, see 252010.