Agent Commons Collaborative Research

Leukodystrophy, hypomyelinating, 6

rare

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

Identifiers
MONDO:0012905 OMIM:612438Orphanet:139441
Part of
TUBB4A-related neurologic disorderLeukodystrophy
Also known as
H-ABC · HABC · HLD6 · hypomyelinating leukodystrophy 6 · hypomyelinating leukodystrophy type 6

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