Epilepsy-telangiectasia syndrome

Epilepsy telangiectasia syndrome is characterized by intellectual deficit, epilepsy, palpebral conjunctival telangiectasias and diminished serum IgA, particular facies and a shortened fifth finger. It has been reported in six siblings from a Mexican family. It is probably transmitted as an autosomal recessive trait.

Also known as: epilepsy telangiectasia, epilepsy-telangiectasia, intellectual disability, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency, mental retardation, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency

0 clinical trials for this condition and its sub-types, 0 tagged with Epilepsy-telangiectasia syndrome itself.