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IQSEC2 is a genetic condition that causes intellectual disability and sometimes other physical, neurological, or psychiatric symptoms. People with this condition can have seizures that are often difficult to control with medications. Other symptoms may include motor and language development delay, regression of learning abilities, autistic-like behavior, characteristic hand movements, and behavioral problems. Physical features may include abnormal head shape (plagiocephaly), very small head (microcephaly), reduced muscle tone (hypotonia), and crossed eyes (strabismus). This condition is caused by mutations in the IQSEC2 gene, which is located on chromosome X. Depending on the severity of the gene mutation, the features can range from only intellectual disability to a syndrome that includes the other symptoms. In general, males are more affected than females. Most cases are not inherited from a parent but are caused by a new (de novo) mutation. When the condition is inherited, the pattern is called X-linked recessive. There is no specific treatment, but early intervention and other services can support development. Seizure medications such as lamotrigine and rufinamide have been reported to control seizures in some people.
Source: GARD Last updated on 05-01-20
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