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Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome

Disease definition

Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms.

ORPHA:69735

  • Synonym(s):
    • Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: -
  • OMIM: 137940  607823
  • UMLS: -
  • MeSH: -
  • GARD: 12827
  • MedDRA: -

Additional information

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