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1q21.1 microdeletion syndrome

Disease definition

1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.

ORPHA:250989

  • Synonym(s):
    • Del(1)(q21)
    • Monosomy 1q21.1
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Not applicable 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q93.5
  • OMIM: 612474
  • UMLS: C2675897
  • MeSH: -
  • GARD: 10813
  • MedDRA: -

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