Disease association ontology term - MONDO:0030974 - mitochondrial complex 2 deficiency, nuclear type 4
Term summary
- ID
- MONDO:0030974
- Name
- mitochondrial complex 2 deficiency, nuclear type 4
- Ontology or CV name
- Disease association
- Definition
- An autosomal recessive disorder due to pathogenic variants in the SDHB gene, resulting in Mitochondrial complex II deficiency and a variety of clinical manifestations, including neurological and muscular symptoms.
