Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0111481 )
Relationships
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Genes Involved
Zebrafish Models