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Pontocerebellar hypoplasia type 2

Disease definition

A rare, genetic form of pontocerebellar hypoplasia characterized by pontocerebellar hypoplasia and progressive neocortical atrophy that manifests clinically with uncoordinated sucking and swallowing, and generalized clonus in the neonate. In early childhood, spasticity, chorea/dyskinesia, seizures and progressive microcephaly develop. Voluntary motor development is lacking.


Classification level: Disorder
  • Synonym(s):
    • PCH2
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q04.3
  • ICD-11: LD20.01
  • OMIM: 277470  612389  612390  613811  617026
  • UMLS: C2932714
  • MeSH: C548070
  • GARD: 10705
  • MedDRA: -

Detailed information

Disease review articles

Clinical Outcome Assessment (COA)

  • Patient-Centered Outcome Measures (PCOMs)
  • English (2023) - PROQOLIDTM
ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)
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