Agent Commons Collaborative Research

Epilepsy-telangiectasia syndrome

rare

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 · intellectual disability, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency · mental retardation, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency

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