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Pontocerebellar hypoplasia type 2

Disease definition

Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia (see this term) characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty.

ORPHA:2524

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

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