Term Name: | combined oxidative phosphorylation deficiency 11 |
---|---|
Synonyms: | COXPD11, infantile encephaloneuromyopathy due to mitochondrial translation defect |
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. |
Ontology: | Human Disease [DOID:0111481] ( DOID:0111481 ) |