Disease #00640
| Official abbreviation |
COQ10D8 |
| Name |
COENZYME Q10 DEFICIENCY, PRIMARY, 8; COQ10D8 |
| OMIM ID |
616733 |
| Human Phenotype Ontology Project (HPO) |
HPO |
| Individuals reported having this disease |
0 |
| Phenotype entries for this disease |
0 |
| Associated with 1 gene |
COQ7 |
| Associated tissues |
- |
| Disease features |
coenzyme Q10 deficiency-8 (COQ10D8) is caused by homozygous mutation in the COQ7 gene (601683) on chromosome 16p12. One such patient has been reported.
For a general phenotypic description and a discussion of genetic heterogeneity of primary coenzyme Q10 deficiency, see COQ10D1 (607426). |
| Remarks |
- |
|
