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15q11.2 microdeletion syndrome

Disease definition

15q11.2 microdeletion syndrome is a rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia).

ORPHA:261183

Classification level: Disorder
  • Synonym(s):
    • 15q11.2 BP1-BP2 microdeletion syndrome
    • Del(15)(q11.2)
    • Monosomy 15q11.2
  • Prevalence: Unknown
  • Inheritance: -
  • Age of onset: Neonatal, Infancy
  • ICD-10: Q93.5
  • ICD-11: LD44.F
  • OMIM: 615656
  • UMLS: C4749854
  • MeSH: -
  • GARD: 10525
  • 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

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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.