combined oxidative phosphorylation deficiency 48

info · Genetic

A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NSUN3 gene on chromosome 3q11.2.

Signs and symptoms

Microcephaly
Decreased activity of mitochondrial complex III
Seizure
Global developmental delay
Increased circulating lactate concentration
Hypotonia
Decreased activity of mitochondrial complex I
Cerebral white matter atrophy
Nystagmus
Failure to thrive

Also known as: COXPD48