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 )

Relationships
is a type of: mitochondrial complex V (ATP synthase) deficiency