Epilepsy-telangiectasia syndrome

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.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 10

HPO ID Term Frequency
HP:0000343 Long philtrum Very frequent (99-80%)
HP:0000463 Anteverted nares Very frequent (99-80%)
HP:0000524 Conjunctival telangiectasia Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001250 Seizures Very frequent (99-80%)
HP:0002720 Decreased circulating IgA level Very frequent (99-80%)
HP:0004313 Decreased antibody level in blood Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0009237 Short 5th finger Very frequent (99-80%)
HP:0000164 Abnormality of the dentition Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID