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14q11.2 microdeletion syndrome

Disease definition

14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism.

ORPHA:261120

Classification level: Disorder
  • Synonym(s):
    • Del(14)(q11.2)
    • Monosomy 14q11.2
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q93.5
  • OMIM: 613457
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

Professionals

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