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DOORS syndrome

Disease definition

A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures.

ORPHA:79500

Classification level: Disorder
  • Synonym(s):
    • Autosomal recessive deafness-onychodystrophy syndrome
    • DOOR syndrome
    • Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome
    • Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
    • Deafness-onychoosteodystrophy-intellectual disability syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Infancy
  • ICD-10: Q87.8
  • OMIM: 220500
  • UMLS: C0795927
  • MeSH: -
  • GARD: 1685
  • MedDRA: -

Detailed information

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