chromosome 15q11.2 deletion syndrome
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
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