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10q22.3q23.3 microduplication syndrome

Disease definition

A rare, chromosomal anomaly characterized by variable clinical features that may include developmental delay, mild intellectual disability and dysmorphic facial features. In some cases, microcephaly, growth retardation and congenital heart defects have been reported.

ORPHA:276422

Classification level: Disorder
  • Synonym(s):
    • Dup(10)(q22.3q23.3)
    • Trisomy 10q22.3q23.3
  • Prevalence: Unknown
  • Inheritance: Unknown or Not applicable 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q92.3
  • OMIM: -
  • UMLS: C5190512
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Español (2018) Français (2018) Italiano (2018) Nederlands (2018)

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.