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X-linked intellectual disability, Armfield type

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


Disease definition

X-linked intellectual disability, Armfield type is characterised by intellectual deficiency, short stature, seizures, and small hands and feet. It has been described in six males from three generations of one family. Three of them also had cataracts/glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28.

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