15q11.2 microdeletion syndrome

Orpha code: 261183OMIM code: 615656

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
-

No additional description.

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