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Tatton-Brown-Rahman syndrome

Disease definition

A rare multiple congenital anomalies syndrome characterized by greater hight, mild to moderate intellectual disability and distinctive facial appereance like round face, heavy, horizontal eyebrows and narrow palpebral fissures.

ORPHA:404443

Classification level: Disorder
  • Synonym(s):
    • DNMT3A-related overgrowth syndrome
    • Tatton-Brown-Rahman overgrowth syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal
  • ICD-10: Q87.3
  • OMIM: 615879
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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