mitochondrial complex V (ATP synthase) deficiency nuclear type 6 (DOID:0111749)
Alliance: disease page
Synonyms: MC5DN6
Alt IDs: OMIM:618683
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.