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Metadata
ID	DOID:0111464
Name	combined oxidative phosphorylation deficiency 35
Definition	A combined oxidative phosphorylation deficiency characterized by global developmental delay with intellectual disability, microcephaly, and early-onset seizures that has_material_basis_in homozygous or compound heterozygous mutation in the TRIT1 gene on chromosome 1p34.2. https://www.ncbi.nlm.nih.gov/pubmed/24901367, https://www.ncbi.nlm.nih.gov/pubmed/28185376
Xrefs	OMIM:617873
Synonyms	COXPD35 [EXACT]
Parent Relationships	is_a combined oxidative phosphorylation deficiency is_a autosomal recessive disease