| Metadata | |
|---|---|
| ID | DOID:0111749 |
| Name | mitochondrial complex V (ATP synthase) deficiency nuclear type 6 |
| Definition | A mitochondrial complex V (ATP synthase) deficiency characterized by episodic regression of gross motor skills beginning in early childhood that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5MD gene on chromosome 10q24.33. https://www.ncbi.nlm.nih.gov/pubmed/29917077 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
MC5DN6 [EXACT] |
| Parent Relationships |