combined oxidative phosphorylation deficiency 36

info · Genetic

A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS2 gene on chromosome 9q34.3.

Signs and symptoms

Poor speech
Increased circulating lactate concentration
Hypotonia
Global developmental delay
Sensorineural hearing impairment
Hypoglycemia
Intellectual disability
Upslanted palpebral fissure
Elevated circulating aspartate aminotransferase concentration
Elevated circulating alanine aminotransferase concentration

Also known as: COXPD36