15q11.2 mikrodelesjon
Også kjent som: 15q11.2 microdeletion syndrome
Engelsk navn: 15q11.2 microdeletion syndrome
Engelske synonym: 15q11.2 BP1-BP2 microdeletion syndrome,Del(15)(q11.2),Monosomy 15q11.2
Definisjon
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).
Fra Orphanet
ORPHA: 261183
Klassifiseringsnivå: Disorder
ICD-10: Q93.5
