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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.

Parents

Annotation

Disease association

MONDO:0012905 - hypomyelinating leukodystrophy 6

References:

Genes: