combined oxidative phosphorylation deficiency 37

info · Genetic

A combined oxidative phosphorylation deficiency characterized by hypotonia, failure to thrive, liver disfunction, and neurodegeneration that has_material_basis_in homozygous or compound heterozygous mutation in MICOS13 on chromosome 19p13.3.

Signs and symptoms

Progressive neurologic deterioration
Poor head control
Hypothermia
Decreased liver function
Cerebellar atrophy
Hypotonia
Hypoalbuminemia
Prolonged prothrombin time
Failure to thrive
Bile duct proliferation

Also known as: COXPD37