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Metadata
ID	DOID:0111492
Name	combined oxidative phosphorylation deficiency 32
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. https://www.ncbi.nlm.nih.gov/pubmed/28777931
Xrefs	OMIM:617664
Synonyms	COXPD32 [EXACT]
Parent Relationships	is_a combined oxidative phosphorylation deficiency is_a autosomal recessive disease