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X-linked intellectual disability, Schimke type

Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance X-linked recessive
Age of onset Infancy
  • Q87.8
  • C1839320
  • C536630
MedDRA -


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.

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