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Isolated cerebellar agenesis

Disease definition

Cerebellar Hypoplasia (CH) has been described in the context of various clinical entities: chromosomal anomalies, in utero exposure to toxins and infectious agents, metabolic disorders and a wide variety of rare genetic neurological diseases.

ORPHA:1398

  • Synonym(s):
    • Chiari 4 malformation
    • Chiari IV malformation
    • 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

Additional information

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