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X-linked intellectual disability, Shrimpton type

Disease definition

An X-linked syndromic intellectual disability characterised by severe intellectual disability, microcephaly and short stature in male patients. Strabismus and spastic diplegia have also been described.

ORPHA:85324

Classification level: Disorder
  • 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: -
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