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Ehlers-Danlos syndrome with periventricular heterotopia

Disease definition

Ehlers-Danlos syndrome (EDS) with periventricular heterotopia is a newly described variant of EDS.


  • Synonym(s):
    • EDS with periventricular heterotopia
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked dominant 
  • Age of onset: Childhood
  • ICD-10: Q79.6
  • OMIM: 300537
  • UMLS: C1845235
  • MeSH: -
  • GARD: 12473
  • MedDRA: -

Detailed information

Article for general public


Additional information

Specialised Social Services

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