Term Name:	combined oxidative phosphorylation deficiency 52
Synonyms:	COXPD52
Definition:	A combined oxidative phosphorylation deficiency characterized by infantile onset, lactic acidemia, hypotonia, respiratory chain complex II and III deficiency, and multisystem organ failure that has_material_basis_in homozygous mutation in the NFS1 gene on chromosome 20q11.
Ontology:	Human Disease [DOID:0070425]   ( DOID:0070425 )