combined oxidative phosphorylation deficiency 7

info · Genetic

A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in C12orf65 on chromosome 12q24.31.

Signs and symptoms

Nystagmus
Facial diplegia
Developmental regression
Global developmental delay
Increased circulating lactate concentration
Optic atrophy
Areflexia
Ataxia
Impaired mastication
Strabismus

Also known as: COXPD7; severe C12ORF65-related COXPD; severe C12ORF65-related combined oxidative phosphorylation defect