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8q21.11 microdeletion syndrome

Disease definition

8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies.

ORPHA:284160

Classification level: Disorder
  • Synonym(s):
    • Del(8)(q21.11)
    • Deletion 8q21.11
    • Monosomy 8q21.11
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Not applicable 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q93.5
  • OMIM: 614230
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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