combined oxidative phosphorylation deficiency 25

info · Genetic

A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MARS2 gene on chromosome 2q33.1.

Signs and symptoms

Long philtrum
Short stature
Anteverted nares
Cerebellar atrophy
Short nose
Generalized hypotonia
Aspiration pneumonia
Feeding difficulties
Global developmental delay
Reduced circulating growth hormone concentration

Also known as: COXPD25