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;
Origin ID : 226850;
UMLS CUI : C1856929;
Currated CISMeF NLP mapping
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)