combined oxidative phosphorylation deficiency 47

info · Genetic

A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS28 gene on chromosome 8q21.13.

Signs and symptoms

Toe syndactyly
Long philtrum
Hepatomegaly
Generalized hypotonia
Cone-shaped epiphyses of the distal phalanges of the hand
Cataract
Failure to thrive
Dehydration
Hypoglycemia
Elevated circulating hepatic transaminase concentration

Also known as: COXPD47