Epilepsy-telangiectasia syndrome

MONDO:0009188

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

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↑ Multiple congenital anomalies/dysmorphic syndrome-intellectual disability (59)

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