Orphanet: Pontocerebellar hypoplasia type 4

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Pontocerebellar hypoplasia type 4

Disease definition

Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH (see this term), characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death.


Classification level: Disorder
  • Synonym(s):
    • Fatal infantile encephalopathy with olivopontocerebellar hypoplasia
    • Olivopontocerebellar hypoplasia
    • PCH4
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q04.3
  • OMIM: 225753
  • UMLS: C1856974
  • MeSH: C536716
  • GARD: 343
  • MedDRA: -

Detailed information


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