Disease association ontology term - MONDO:0030937 - mitochondrial complex 2 deficiency, nuclear type 3
Term summary
- ID
- MONDO:0030937
- Name
- mitochondrial complex 2 deficiency, nuclear type 3
- Ontology or CV name
- Disease association
- Definition
- A an autosomal recessive caused by pathogenic variants in the SDHD gene, leading to dysfunction of mitochondrial complex II. Clinical features are variable and may include Leigh syndrome, cardiomyopathy, and other neurological and muscular manifestations.
