combined oxidative phosphorylation deficiency 34 (DOID:0111497)
Alliance: disease page
Synonyms: COXPD34; syndromic sensorineural deafness due to combined oxidative phosphorylation defect; syndromic sensorineural deafness due to COXPD; syndromic sensorineural hearing loss due to COXPD
Alt IDs: OMIM:617872, ORDO:457223
Definition: 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.