mitochondrial complex V (ATP synthase) deficiency nuclear type 6

info · Genetic

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.

Signs and symptoms

Developmental regression
Ataxia
Lethargy
Chorea
Ophthalmoplegia
Bradykinesia
Hypertrophic cardiomyopathy
Hyperreflexia

Also known as: MC5DN6