combined oxidative phosphorylation deficiency 23 (DOID:0111500)
Alliance: disease page
Synonyms: COXPD23
Alt IDs: OMIM:616198, ORDO:444013
Definition: A combined oxidative phosphorylation deficiency characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the GTPBP3 gene on chromosome 19p13.11.