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2q32q33 microdeletion syndrome

Disease definition

A rare autosomal monosomy characterized by a variable phenotype with moderate to severe intellectual disability, behavioral problems, short stature, microcephaly, dysplastic nails, sparse hair, cleft palate and dysmorphic craniofacial features.

ORPHA:251019

Classification level: Disorder
  • Synonym(s):
    • Del(2)(q32)
    • Del(2)(q32q33)
    • Monosomy 2q32
    • Monosomy 2q32q33
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q93.5
  • OMIM: 612313
  • UMLS: C2676739
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Deutsch (2011) Español (2011) Français (2011) Italiano (2011) Nederlands (2011) Português (2011) Greek (2011, pdf) Japanese (2011, pdf) Polski (2011, pdf)

Detailed information

General public

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.