Term Name:	mitochondrial complex V (ATP synthase) deficiency nuclear type 6
Synonyms:	MC5DN6
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.
Ontology:	Human Disease [DOID:0111749]   ( DOID:0111749 )