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X-linked intellectual disability, Armfield type

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.

ORPHA:85276

  • Synonym(s):
    • Armfield syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 300261
  • UMLS: C1846057
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

Specialised Social Services

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