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Pontocerebellar hypoplasia type 1

Disease definition

Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death.

ORPHA:2254

  • Synonym(s):
    • Norman disease
    • PCH1
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q04.3
  • OMIM: 607596  614678  616081
  • UMLS: C1843504
  • MeSH: C548069
  • GARD: 10704
  • MedDRA: -

Detailed information

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