epilepsy-telangiectasia syndrome
MONDO:0009188Mondo
Findings
No curated finding names epilepsy-telangiectasia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0009188), read 2026-09-29. CC BY 4.0.
Features
10 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Anteverted naresHPOHP:0000463
- Very frequent (80% to 99% of cases)
- Conjunctival telangiectasiaHPOHP:0000524
- Very frequent (80% to 99% of cases)
- Decreased circulating IgA concentrationHPOHP:0002720
- Very frequent (80% to 99% of cases)
- Decreased circulating immunoglobulin concentrationHPOHP:0004313
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Long philtrumHPOHP:0000343
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- Very frequent (80% to 99% of cases)
- Short 5th fingerHPOHP:0009237
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Abnormality of the dentitionHPOHP:0000164
- Frequent (30% to 79% of cases)