Description of the disease * EnglishPolish Pobierz sekcję do PDF 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). Disease data Classification Malformation syndrome Synonyms 15q11.2 BP1-BP2 microdeletion syndrome Del(15)(q11.2) Monosomia 15q11.2 Del(15)(q11.2) Monosomy 15q11.2 ORPHA code 261183 OMIM code 615656 ICD10 code Q93.5 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl