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 )

Relationships
is a type of: autosomal recessive disease combined oxidative phosphorylation deficiency