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W syndrome

Disease definition

W syndrome is characterised by intellectual deficit, epileptic seizures and facial dysmorphism. Skeletal anomalies are also often present. To date, it has been described in six male patients. The mode of transmission appears to be X-linked dominant.


Classification level: Disorder
  • Synonym(s):
    • Pallister-W syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 311450
  • UMLS: C0796110
  • MeSH: -
  • GARD: 358
  • MedDRA: -
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