Term Name:	combined oxidative phosphorylation deficiency 32
Synonyms:	COXPD32
Definition:	A combined oxidative phosphorylation deficiency characterized by onset in infancy of delayed psychomotor development and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS34 gene on chromosome 16p13.3.
Ontology:	Human Disease [DOID:0111492]   ( DOID:0111492 )