15q11.2 microdeletion syndrome
Synonyms: 15q11.2 BP1-BP2 microdeletion syndrome | Del(15)(q11.2) | Monosomy 15q11.2
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).
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
Newly diagnosed with
15q11.2 microdeletion syndrome?
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