Disease #00574
| Official abbreviation |
MC1DN10 618233 |
| Name |
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10; MC1DN10 |
| OMIM ID |
618233 |
| Human Phenotype Ontology Project (HPO) |
HPO |
| Individuals reported having this disease |
0 |
| Phenotype entries for this disease |
0 |
| Associated with 1 gene |
NDUFAF2 |
| Associated tissues |
- |
| Disease features |
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. |
| Remarks |
- |
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