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Syndromic X-linked ichthyosis

Disease definition

Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI (see this term) that are associated with extracutaneous manifestations as part of a syndrome.

ORPHA:281090

  • Synonym(s):
    • Syndromic RXLI
    • Syndromic recessive X-linked ichthyosis
  • Prevalence: 1-9 / 100 000
  • Inheritance: X-linked recessive 
  • Age of onset: Childhood
  • ICD-10: Q80.1
  • OMIM: 308100
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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