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Intellectual disability-developmental delay-contractures syndrome

Disease definition

Intellectual disability-developmental delay-contractures syndrome, formerly known as Wieacker-Wolff syndrome, is a severe X-linked recessive neurodevelopmental disorder characterized by severe contractures (arthrogryposis; see this term) and intellectual disability.

ORPHA:3454

  • Synonym(s):
    • Foot contractures-muscle atrophy-oculomotor apraxia syndrome
    • Wieacker-Wolff syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive or Not applicable 
  • Age of onset: Neonatal
  • ICD-10: G71.8
  • OMIM: 314580
  • UMLS: C0796200
  • MeSH: C536703
  • GARD: 7890
  • MedDRA: -

Detailed information

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