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Dubowitz syndrome

Disease definition

Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.

ORPHA:235

  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q87.1
  • OMIM: 223370
  • UMLS: C0175691
  • MeSH: C535718
  • GARD: 6290
  • MedDRA: 10059589

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