combined oxidative phosphorylation deficiency 44

info · Genetic

A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the FASTKD2 gene on chromosome 2q33.

Signs and symptoms

Seizure
Global developmental delay
Increased circulating lactate concentration
Dyskinesia
Delayed ability to walk
Abnormal basal ganglia MRI signal intensity
Cerebral atrophy
Slurred speech
Generalized hypotonia
Nystagmus

Also known as: COXPD44