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X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome

Disease definition

X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982.

ORPHA:3055

  • Synonym(s):
    • Young-Hughes syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Neonatal, Infancy
  • ICD-10: Q87.8
  • OMIM: -
  • UMLS: C0796264
  • MeSH: -
  • GARD: 345
  • MedDRA: -

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