Epilepsy-telangiectasia syndrome

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Epilepsy-telangiectasia syndrome

A rare genetic epilepsy syndrome characterized by epilepsy palpebral conjunctival telangiectasias borderline to moderate intellectual disability diminished serum IgA levels shortened fifth fingers and dysmorphic facial features (including frontal hirsutism synophrys anteverted nostrils prominent ears long philtrum irregular teeth implantation micrognathia). No new cases have been described in the literature since 1978.

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 May 2024

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