Term Name: | mitochondrial complex V (ATP synthase) deficiency nuclear type 2 |
---|---|
Synonyms: | MC5DN2, neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency |
Definition: | A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the TMEM70 gene on chromosome 8q21. |
Ontology: | Human Disease [DOID:0060331] ( DOID:0060331 ) |