Term Name:	combined oxidative phosphorylation deficiency 58
Synonyms:	COXPD58
Definition:	A combined oxidative phosphorylation deficiency characterized by a wide range of clinical presentations including neonatal lactic acidosis, epileptic encephalopathy, developmental delay and impaired intellectual development with nonspecific changes on brain MRI, or mitochondrial myopathy with a treatable neuromuscular transmission defect and that has_material_basis_in homozygous or compound heterozygous mutation in the TEFM gene on chromosome 17q11.2.
Ontology:	Human Disease [DOID:0061399]   ( DOID:0061399 )