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epilepsy-telangiectasia syndrome

Disease Summary
Associated Targets ()

Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0009188:  epilepsy-telangiectasia syndrome
GARD:0002168: 
MESH:C535497: 
Orphanet:1951: 
UMLS:C1856929: