" /> Epilepsy-telangiectasia - CISMeF





Preferred Label : Epilepsy-telangiectasia;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : In 6 of 7 sibs of a Mexican family, Aguilar et al. (1978) described mental retardation, epilepsy, telangiectases limited to the palpebral conjunctiva, diminished serum IgA, and peculiar facies, including synophrys. The parents, who were not related, and 1 sib were normal. *FIELD* RF 1. Aguilar, L.; Lisker, R.; Hernandez-Peniche, J.; Martinez-Villar, C.: A new syndrome characterized by mental retardation, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency. Clin. Genet. 13: 154-158, 1978. *FIELD* CS;

Inheritance : Autosomal recessive;

Prefixed ID : 226850;

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04/05/2025


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