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epilepsy-telangiectasia syndrome

MeSH: C535497ORPHA: 1951

Contents

  1. 1. Available Treatments
  2. 2. Clinical Presentation
  3. 3. Classification & Codes

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with epilepsy-telangiectasia syndrome, sourced from HPO and Orphanet clinical annotations.

Abnormality of the dentitionLong philtrumAnteverted naresConjunctival telangiectasiaIntellectual disabilitySeizureDecreased circulating IgA concentrationDecreased circulating immunoglobulin concentrationShort statureShort 5th finger

Classification & Codes

MeSH Code

C535497

Orphanet Code

ORPHA:1951
epilepsy-telangiectasia syndrome
MeSHC535497
OrphanetORPHA:1951
Treatments0 drug(s)
Symptoms on record10 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO