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X-linked intellectual disability, Shrimpton type

Disease definition

X-linked intellectual disability, Shrimpton type is characterised by the association of severe intellectual deficit with microcephaly, strabismus and short stature. It has been described in three boys from two unrelated families. Transmission is X-linked recessive and the causative gene has been localised to the q12-Xq21.31 region of the X-chromosome.

ORPHA:85324

  • Synonym(s):
    • MRXS9
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 300709
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

Specialised Social Services

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