Conditions / Genetic
combined oxidative phosphorylation deficiency 34
info · Genetic
A combined oxidative phosphorylation deficiency typically characterized by congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS7 gene o
A combined oxidative phosphorylation deficiency typically characterized by congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS7 gene on chromosome 17q25.1.
Signs and symptoms
- Hepatic steatosis
- Increased circulating lactate concentration
- Hypoglycemia
- Congenital sensorineural hearing impairment
- Hepatic failure
- Vomiting
- Hepatomegaly
- Hypergonadotropic hypogonadism
- Failure to thrive
- Elevated circulating thyroid-stimulating hormone concentration
Also known as: COXPD34; syndromic sensorineural deafness due to COXPD; syndromic sensorineural deafness due to combined oxidative phosphorylation defect; syndromic sensorineural hearing loss due to COXPD