Intellectual disability-strabismus syndrome

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A rare genetic syndromic intellectual disability disorder characterized by moderate to severe intellectual disability and esotropia. Other associated features may include growth failure (underweight failure to thrive short stature) microcephaly tone abnormalities (hypotonia spasticity) epilepsy behavioral problems (hyperactivity aggressiveness) and/or abnormal brain morphology including arachnoid cyst cerebral atrophy mild ventriculomegaly abnormal CNS myelination or corpus callosum agenesis.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Intellectual disability-strabismus syndrome?

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