combined oxidative phosphorylation deficiency 52 (DOID:0070425)
Alliance: disease page
Synonyms: COXPD52
Alt IDs: OMIM:619386
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.