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3p25.3 microdeletion syndrome

Disease definition

3p25.3 microdeletion syndrome is a rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements.

ORPHA:435638

Classification level: Disorder
  • Synonym(s):
    • Del(3)p(25.3)
    • Intellectual disability-epilepsy-stereotypic hand movement syndrome
    • Monosomy 3p25.3
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable 
  • Age of onset: Neonatal, Infancy
  • ICD-10: Q93.5
  • ICD-11: LD44.31
  • OMIM: -
  • UMLS: C5437630
  • MeSH: -
  • GARD: -
  • MedDRA: -

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

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.