Term Name: | combined oxidative phosphorylation deficiency 34 |
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Synonyms: | COXPD34, syndromic sensorineural deafness due to combined oxidative phosphorylation defect, syndromic sensorineural deafness due to COXPD, syndromic sensorineural hearing loss due to COXPD |
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. |
Ontology: | Human Disease [DOID:0111497] ( DOID:0111497 ) |