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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: -
  • ICD-10: Q93.5
  • OMIM: 615656
  • UMLS: C3180937
  • MeSH: -
  • GARD: 10525
  • MedDRA: -

Additional information

Further information on this disease

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