Disease association ontology term - MONDO:0012905 - hypomyelinating leukodystrophy 6
Term summary
- ID
- MONDO:0012905
- Name
- hypomyelinating leukodystrophy 6
- Ontology or CV name
- Disease association
- Definition
- A leukodystrophy characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria.