Orphanet: Isolated cerebellar agenesis
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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: -
  • MeSH: -
  • GARD: -
  • MedDRA: 10008033

  A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020) Deutsch (2005) Italiano (2005)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.