combined oxidative phosphorylation deficiency 11 (DOID:0111481)
Alliance: disease page
Synonyms: COXPD11; infantile encephaloneuromyopathy due to mitochondrial translation defect
Alt IDs: OMIM:614922, ORDO:324535
Definition: A combined oxidative phosphorylation deficiency characterized by neonatal hypotonia, lactic acidosis, death in infancy and in some cases respiratory insufficiency, foot deformities, or seizures that has_material_basis_in homozygous or compound heterozygous mutation in the RMND1 gene on chromosome 6q25.1.