Overview
Epilepsy telangiectasia syndrome is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Decreased body height
Very frequent (80-99%)HP:0004322
Decreased circulating immunoglobulin concentration
Very frequent (80-99%)HP:0004313
Dull intelligence
Very frequent (80-99%)HP:0001249
Hypoplastic/small little finger
Very frequent (80-99%)HP:0009237
Increased length of philtrum
Very frequent (80-99%)HP:0000343
Low levels of immunoglobulin A
Very frequent (80-99%)HP:0002720
Nostrils anteverted
Very frequent (80-99%)HP:0000463
Seizures
Very frequent (80-99%)HP:0001250
Small dilated blood vessels near membrane covering front of eye and eyelids
Very frequent (80-99%)HP:0000524
Dental anomalies
Frequent (30-79%)HP:0000164
Related Conditions
Multiple malformation syndrome with facial-limb defects as major feature(parent)
Epilepsy(parent)
Recessive hereditary disorder (autosomal)(parent)
Conjunctival telangiectasis(parent)
Brachydactyly of hand(parent)
Hereditary disorder of nervous system(parent)
Hereditary disorder of the visual system(parent)
Lesion of conjunctiva(parent)
Congenital anomaly of anterior segment of eye(parent)
Congenital anomaly of ocular adnexa(parent)
Developmental hereditary disorder(parent)
Genetic intellectual disability(parent)
Abnormally short little finger(parent)
Quick Facts
- SNOMED CT
- 733032006
- UMLS CUI
- C4518554
- Fully Specified Name
- Epilepsy telangiectasia syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 10
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.