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Non-syndromic pontocerebellar hypoplasia

Disease definition

Nonsyndromic pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described (see these terms), generally inherited in an autosomal recessive pattern.

ORPHA:98523

  • Synonym(s):
    • PCH
    • Pontoneocerebellar atrophy
    • Pontoneocerebllar hypoplasia
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q04.3
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: 10977  8168
  • MedDRA: -

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