Disease association ontology term - MONDO:0013837 - deafness-encephaloneuropathy-obesity-valvulopathy syndrome
Term summary
- ID
- MONDO:0013837
- Name
- deafness-encephaloneuropathy-obesity-valvulopathy syndrome
- Ontology or CV name
- Disease association
- Definition
- Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated.
