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2p15p16.1 microdeletion syndrome

Disease definition

2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.

ORPHA:261349

Classification level: Disorder
  • Synonym(s):
    • Del(2)(p15p16.1)
    • Monosomy 2p15p16.1
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q93.5
  • OMIM: 612513
  • UMLS: C2675875
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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