15q11.2 microdeletion syndrome
Name: |
15q11.2 microdeletion syndrome
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Description: |
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). |
ORPHAcode: |
261183
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Analyte(s): | |
Created: |
09 Mar 2022 - 13:53
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Changed: |
09 Mar 2022 - 13:54
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