combined oxidative phosphorylation deficiency 55

info · Genetic

A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the POLRMT gene on chromosome 19p13.

Signs and symptoms

Short stature
Hypotonia
Myopathy
Intellectual disability
Global developmental delay
Strabismus
Bilateral ptosis
Microcephaly
Absent speech
Increased circulating lactate concentration

Also known as: COXPD55