combined oxidative phosphorylation deficiency 57

info · Genetic

A combined oxidative phosphorylation deficiency that has_material_basis_in compound heterozygous or homozygous mutation in the CRLS1 gene on chromosome 20p12.

Signs and symptoms

Developmental regression
Decreased activity of mitochondrial complex III
Global developmental delay
Decreased activity of mitochondrial complex I
Decreased activity of mitochondrial complex IV
Hypotonia
Bull's eye maculopathy
Dystonia
Cerebral atrophy
Myoclonus

Also known as: COXPD57