Conditions / Genetic
mitochondrial complex V (ATP synthase) deficiency nuclear type 1
info · Genetic
A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATPAF2 gene on chromosome 17p11.
Signs and symptoms
- Hypertonia
- Dysplastic corpus callosum
- Renal hypoplasia
- Aminoaciduria
- Flexion contracture
- Hepatomegaly
- Failure to thrive
- Lacticaciduria
- Retrognathia
- Wide mouth
Also known as: MC5DN1