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Epilepsy-telangiectasia syndrome
rareEpilepsy 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.
- Identifiers
- MONDO:0009188 OMIM:226850Orphanet:1951
- 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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