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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
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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