combined oxidative phosphorylation deficiency 38

info · Genetic

A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS14 gene on chromosome 1q25.1.

Signs and symptoms

Delayed speech and language development
Delayed ability to walk
Decreased activity of mitochondrial complex III
Decreased activity of mitochondrial ATP synthase complex
Global developmental delay
Increased circulating lactate concentration
Generalized hypotonia
Midface retrusion
Respiratory insufficiency
Decreased activity of mitochondrial complex I

Also known as: COXPD38