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combined oxidative phosphorylation deficiency 11
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease combined oxidative phosphorylation deficiency
External Links
- Disease Ontology
- DOID:0111481
- Mondo Disease Ontology
- ORDO
- OMIM
