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X-linked intellectual disability, Schimke type

Orpha number ORPHA85285
Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance X-linked recessive
Age of onset Infancy
Neonatal
ICD-10
  • Q87.8
ICD-O -
OMIM
UMLS
  • C1839320
MeSH
  • C536630
MedDRA -
SNOMED CT -

Summary

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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