combined oxidative phosphorylation deficiency 54

info · Genetic

A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PRORP gene on chromosome 14q13.

Signs and symptoms

Global developmental delay
Absence of acoustic reflex
Hypergonadotropic hypogonadism
Intellectual disability
Primary amenorrhea
Periventricular white matter hyperintensities
Sensorineural hearing impairment
Epicanthus
Hypertonia
Hypoesthesia

Also known as: COXPD54