chromosome 15q11.2 deletion syndrome
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).
MONDO:0016913
partial deletion of the long arm of chromosome 15
is_a
15q11.2 BP1-BP2 microdeletion syndrome
exact
15q11.2 microdeletion
related
15q11.2 microdeletion syndrome
exact
Del(15)(q11.2)
exact
chromosome 15q11.2 deletion
related
chromosome 15q11.2 deletion syndrome
exact
chromosome 15q11.2 microdeletion
related
monosomy 15q11.2
exact