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Metadata
ID	DOID:0070429
Name	combined oxidative phosphorylation deficiency 56
Definition	A combined oxidative phosphorylation deficiency characterized by lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis that has_material_basis_in compound heterozygous mutation in the TAMM41 gene on chromosome 3p25. https://pubmed.ncbi.nlm.nih.gov/35321494/
Xrefs	MIM:620139
SKOS	exactMatch MIM:620139
Synonyms	COXPD56 [EXACT]
Parent Relationships	is_a combined oxidative phosphorylation deficiency is_a autosomal recessive disease