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X-linked intellectual disability, Shrimpton type

ORPHA85324
Synonym(s) MRXS9
Prevalence <1 / 1 000 000
Inheritance X-linked recessive
Age of onset Infancy
Neonatal
ICD-10
  • Q87.8
OMIM
UMLS -
MeSH -
MedDRA -

Summary

This syndrome 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.


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