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19p13.12 microdeletion syndrome

Disease definition

19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism.


Classification level: Disorder
  • Synonym(s):
    • Del(19)(p13.12)
    • Monosomy 19p13.12
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q93.5
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: 10991
  • MedDRA: -

Detailed information


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