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X-linked intellectual disability, Shashi type

Disease definition

X-linked intellectual disability, Shashi type is characterised by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome.

ORPHA:85286

  • Synonym(s):
    • Syndromic X-linked intellectual disability type 11
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 300238
  • UMLS: -
  • MeSH: -
  • GARD: 4119
  • MedDRA: -

Additional information

Specialised Social Services

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