Hypomyelination with atrophy of basal ganglia and cerebellum

Orpha code: 139441OMIM code: 612438

Definition

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

Disease data
Classification

Disease

Synonyms
H-ABC
H-ABC
ORPHA code
139441
OMIM code
612438
ICD10 code
E75.2
ICD11 code
8A44.3

No additional description.

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