combined oxidative phosphorylation deficiency 11

Term ID

DOID:0111481

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. https://www.ncbi.nlm.nih.gov/pubmed/23022099

References

• OMIM:614922
• ORDO:324535

Ontology

Human Disease   ( DOID:0111481 )