Browse
Explore conditions, clinical trials, and the organisations running them.
Up to: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
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.
This condition has no sub-types.