combined oxidative phosphorylation deficiency 34

Term ID

DOID:0111497

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. https://www.ncbi.nlm.nih.gov/pubmed/25556185

References

• MIM:617872
• ORDO:457223

Ontology

Human Disease   ( DOID:0111497 )