Epilepsy-telangiectasia

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;

Détails

Origin ID

226850;

UMLS CUI

C1856929;

Currated CISMeF NLP mapping
- Epilepsy telangiectasia [MeSH concept]
- Epilepsy telangiectasia syndrome (disorder) [SNOMED CT concept]
- Epilepsy-telangiectasia syndrome [ORDO Disease]
- epilepsy telangiectasia [MeSH Supplementary Concept]
HPO term(s)
- Abnormal facial shape [HPO term]
- Abnormality of metabolism/homeostasis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Conjunctival telangiectasia [HPO term]
- Intellectual disability [HPO term]
- Seizure [HPO term]
- Synophrys [HPO term]
ORDO concept(s)
- Epilepsy-telangiectasia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Epilepsy telangiectasia [MeSH concept]
- Epilepsy-telangiectasia syndrome [ORDO Disease]
- epilepsy telangiectasia [MeSH Supplementary Concept]

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