combined oxidative phosphorylation deficiency 27

info · Genetic

A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the CARS2 gene on chromosome 13q34.

Signs and symptoms

Bilateral tonic-clonic seizure
Hearing impairment
Dystonia
Cerebral cortical atrophy
Cerebellar atrophy
Hypotonia
Thin corpus callosum
Failure to thrive
Hyperammonemia
Mental deterioration

Also known as: COXPD27