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X-linked intellectual disability with marfanoid habitus

Disease definition

The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.

ORPHA:776

  • Synonym(s):
    • Lujan syndrome
    • Lujan-Fryns syndrome
  • Prevalence: Unknown
  • Inheritance: X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 300676  309520
  • UMLS: C0796022
  • MeSH: -
  • GARD: 3307
  • MedDRA: -

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