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Syndromic X-linked intellectual disability 7

Disease definition

A rare, X-linked syndromic intellectual disability disorder characterized by mild to moderate intellectual disability, obesity, hypogonadism, tapering fingers and microphallus with small or undescended testes, localized to Xp11.3-Xq23. Additional varible manifestations include alopecia, dental and eyesight anomalies, speech disabilities, and decreased body strength.


Classification level: Disorder
  • Synonym(s):
    • MRXS7
    • X-linked intellectual disability, Ahmad type
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: No data available
  • ICD-10: Q87.8
  • OMIM: 300218
  • UMLS: C1846170
  • MeSH: C537449
  • GARD: 9156
  • MedDRA: -
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