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Distal monosomy 6p

Disease definition

Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism.

ORPHA:96125

Classification level: Disorder
  • Synonym(s):
    • 6p subtelomeric deletion syndrome
    • 6p25 microdeletion syndrome
    • Distal deletion 6p
    • Monosomy 6p25
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q93.5
  • OMIM: 612582
  • UMLS: C2675486
  • MeSH: -
  • GARD: -
  • MedDRA: -
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