Hypomyelinating leukodystrophy 6

MONDO:0012905

A leukodystrophy characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria.

Also known as: H-ABC, HABC, HLD6, hypomyelinating leukodystrophy type 6, hypomyelination with atrophy of basal ganglia and cerebellum, leukodystrophy, hypomyelinating, type 6, leukodystrophy, hypomyelinating, 6, leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum

2 clinical trials for this condition and its sub-types.

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