Term Name:	combined oxidative phosphorylation deficiency 56
Synonyms:	COXPD56
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.
Ontology:	Human Disease [DOID:0070429]   ( DOID:0070429 )