Disease #00611 (MC1DN (mitochondrial complex I deficiency, nuclear (MC1DN)), OMIM:252010)
Official abbreviation |
MC1DN |
Name |
mitochondrial complex I deficiency, nuclear (MC1DN) |
OMIM ID |
252010 |
Human Phenotype Ontology Project (HPO) |
HPO |
Inheritance |
Autosomal recessive |
Individuals reported having this disease |
31 |
Phenotype entries for this disease |
29 |
Associated with 20 genes |
ACAD9, FOXRED1, NDUFA1, NDUFA11, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFV1, NDUFV2, NUBPL, TIMMDC1 |
Associated tissues |
- |
Disease features |
- |
Remarks |
- |
Individuals
|
|