combined oxidative phosphorylation deficiency 4

info · Genetic

A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TUFM gene on chromosome 16p11.2.

Signs and symptoms

Opisthotonus
Encephalopathy
Microcephaly
Developmental regression
Increased circulating lactate concentration
Hepatomegaly
Nystagmus
Hyperammonemia
Neonatal hypotonia
Respiratory failure

Also known as: COXPD4