Orphanet: Deafness lymphedema leukemia syndrome

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Deafness-lymphedema-leukemia syndrome

Disease definition

Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.


Classification level: Disorder
  • Synonym(s):
    • Emberger syndrome
    • Hearing loss-lymphedema-leukemia syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: D46.7
  • OMIM: 614038
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information


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