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intellectual disability, X-linked, Armfield type

Orpha number ORPHA85276
Synonym(s) Armfield syndrome
Prevalence <1 / 1 000 000
Inheritance
  • X-linked recessive
Age of onset Neonatal/infancy
ICD-10 -
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

This syndrome 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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