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Isolated cerebellar agenesis

Disease definition

A rare non-syndromic central nervous system malformation characterized by complete or near-complete absence of the cerebellum with a normal sized posterior fossa, possibly accompanied by hypoplasia of the brainstem. The clinical picture is highly variable, but typically includes ataxia, dysarthria, tremor, dysmetria, dysdiadochokinesia, and oculomotor abnormalities, in addition to impaired mental, motor, and language development and intellectual disability.

ORPHA:1398

Classification level: Disorder
  • Synonym(s):
    • Near total absence of cerebellum
    • Subtotal absence of cerebellum
  • Prevalence: Unknown
  • Inheritance: -
  • Age of onset: Childhood
  • ICD-10: Q04.3
  • OMIM: -
  • UMLS: C0266470  C0344488
  • MeSH: -
  • GARD: -
  • MedDRA: 10008033
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