combined oxidative phosphorylation deficiency 51

info · Genetic

A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PTCD3 gene on chromosome 2p11.2.

Signs and symptoms

Severe short stature
Cerebral atrophy
Hearing impairment
Developmental regression
Rigidity
Caesarean section
Decreased activity of mitochondrial complex I
Aspiration pneumonia
Nystagmus
Small for gestational age

Also known as: COXPD51