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8p23.1 microdeletion syndrome

Disease definition

8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects.

ORPHA:251071

Classification level: Disorder
  • Synonym(s):
    • Del(8)(p23.1)
    • Monosomy 8p23.1
  • Prevalence: Unknown
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q93.5
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: 3769
  • MedDRA: -
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