Term Name:	combined oxidative phosphorylation deficiency 23
Synonyms:	COXPD23
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.
Ontology:	Human Disease [DOID:0111500]   ( DOID:0111500 )