| Term Name: | mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1 |
|---|---|
| Synonyms: | MC5DM1 |
| Definition: | A mitochondrial complex V (ATP synthase) deficiency characterized by lactic acidemia, hypotonia, and neurodegenerative disease that has_material_basis_in mutation in mitochondrial gene MTATP6. |
| Ontology: | Human Disease [DOID:0111748] ( DOID:0111748 ) |