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Pontocerebellar hypoplasia type 1

Disease definition

A severe, genetic form of pontocerebellar hypoplasia (PCH) characterized by spinal cord anterior horn cell degeneration in addition to pontocerebellar hypoplasia. Clinically, patients manifest with a severe global development deficit that is evident early on from difficulties in feeding and swallowing


Classification level: Disorder
  • Synonym(s):
    • Norman disease
    • PCH1
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q04.3
  • ICD-11: LD20.01
  • OMIM: 607596  614678  616081  618065  619303  619304
  • UMLS: C5442006
  • MeSH: C548069
  • GARD: 10704
  • 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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