Term Name: combined oxidative phosphorylation deficiency 34
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 )

Relationships
is a type of: autosomal recessive disease combined oxidative phosphorylation deficiency