Disease association ontology term - MONDO:0015025 - developmental and epileptic encephalopathy, 51
Term summary
- ID
- MONDO:0015025
- Name
- developmental and epileptic encephalopathy, 51
- Ontology or CV name
- Disease association
- Definition
- Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the MDH2 gene.