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Female restricted epilepsy with intellectual disability syndrome
disorderSNOMED 716706009CUI C1848137
Overview
Female restricted epilepsy with intellectual disability 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.
ASD
Frequent (30-79%)HP:0000729
Bilateral tonic-clonic seizure with generalized onset
Frequent (30-79%)HP:0025190
Cephalic aura
Frequent (30-79%)HP:0032810
Childhood attention deficit/hyperactivity disorder
Frequent (30-79%)HP:0007018
Convulsive status epilepticus
Frequent (30-79%)HP:0032660
Dilated cerebral ventricle
Frequent (30-79%)HP:0002119
Drop attacks
Frequent (30-79%)HP:0010819
Mental and motor retardation
Frequent (30-79%)HP:0001263
Mental deficiency
Frequent (30-79%)HP:0001249
Moderate mental retardation
Frequent (30-79%)HP:0002342
Unilateral clonic seizure
Frequent (30-79%)HP:0006813
Aggression
HP:0000718
Focal seizures
HP:0007359
Generalized non-motor (absence) seizure
HP:0002121
Generalized tonic-clonic seizure (without specification of onset)
HP:0002069
Myoclonic epilepsy, progressive
HP:0002123
Neurodevelopmental regression
HP:0002376
Prolonged seizure
HP:0002133
Psychosis
HP:0000709
Quick Facts
- SNOMED CT
- 716706009
- UMLS CUI
- C1848137
- Fully Specified Name
- Protocadherin 19 clustering epilepsy (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 19
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.