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2q32q33 microdeletion syndrome

Disease definition

2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.

ORPHA:251019

  • Synonym(s):
    • 2q32-q33 microdeletion syndrome
    • Del(2)(q32)
    • Del(2)(q32q33)
    • Monosomy 2q32
    • Monosomy 2q32-q33
    • Monosomy 2q32q33
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q93.5
  • OMIM: 612313
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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