combined oxidative phosphorylation deficiency 41

info · Genetic

A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GATB gene on chromosome 4q31.3.

Signs and symptoms

Hearing impairment
Cardiomegaly
Anemia
Lactic acidosis
Elevated circulating creatine kinase activity
Decreased circulating cortisol level
Nonimmune hydrops fetalis
Hypoglycemia
Intrauterine growth retardation
Premature birth

Also known as: COXPD41