Orphanet: Syndrome de Heimler

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Deafness-enamel hypoplasia-nail defects syndrome


Classification level: Disorder
  • Synonym(s):
    • Hearing loss-enamel hypoplasia-nail defects syndrome
    • Heimler syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: -
  • OMIM: 234580  616617
  • UMLS: C1856186
  • MeSH: C535994
  • GARD: 1687
  • MedDRA: -
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