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X-linked intellectual disability, Schimke type

Disease definition

X-linked mental retardation, Schimke type, is characterised by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys, three of whom were from the same family. Transmission is X-linked.


  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 312840
  • UMLS: C1839320
  • MeSH: C536630
  • GARD: 9288
  • MedDRA: -

Additional information

Specialised Social Services

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