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6q25 microdeletion syndrome

Disease definition

6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.

ORPHA:251056

  • Synonym(s):
    • Del(6)(q25)
    • Monosomy 6q25
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q93.5
  • OMIM: 612863
  • UMLS: -
  • MeSH: -
  • GARD: 3764
  • MedDRA: -

Detailed information

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