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Hypomyelination with atrophy of basal ganglia and cerebellum

Disease definition

Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria.

ORPHA:139441

  • Synonym(s):
    • H-ABC
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E75.2
  • OMIM: 612438
  • UMLS: -
  • MeSH: -
  • GARD: 10917
  • MedDRA: -

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