Disease association ontology term - MONDO:0013546 - mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
Term summary
- ID
- MONDO:0013546
- Name
- mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
- Ontology or CV name
- Disease association
- Definition
- Any mitochondrial complex deficiency in which the cause of the disease is a mutation in the TMEM70 gene. It is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.
