Orphanet: Pontocerebellar hypoplasia type 5

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Pontocerebellar hypoplasia type 5

Disease definition

Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH (see this terme) with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5.


Classification level: Disorder
  • Synonym(s):
    • Fetal-onset olivopontocerebellar hypoplasia
    • PCH5
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q04.3
  • OMIM: 610204
  • UMLS: C1857762
  • MeSH: -
  • GARD: 10709
  • MedDRA: -

Detailed information


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