Orphanet: Distal Xq28 microduplication syndrome
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Distal Xq28 microduplication syndrome

Disease definition

Distal Xq28 microduplication syndrome is a rare, hereditary, syndromic intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism.

ORPHA:293939

Classification level: Disorder
  • Synonym(s):
    • Distal dup(X)q(28)
    • Distal trisomy Xq28
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q99.8
  • OMIM: 300815
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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