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Prader-Willi syndrome

Disease definition

A rare genetic, neurodevelopmental syndrome characterized by hypothalamic-pituitary dysfunction with severe hypotonia and feeding deficits during the neonatal period followed by an excessive weight gain period with hyperphagia with a risk of severe obesity during childhood and adulthood, learning difficulties, deficits of social skills and behavioral problems or severe psychiatric problems.

ORPHA:739

Classification level: Disorder
  • Synonym(s):
    • Prader-Labhart-Willi syndrome
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal dominant or Not applicable 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q87.1
  • OMIM: 176270  615547
  • UMLS: C0032897
  • MeSH: D011218
  • GARD: 5575
  • MedDRA: 10036476

Detailed information

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