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Female restricted epilepsy with intellectual disability syndrome

disorder
SNOMED 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

Related Conditions

Epilepsy(parent)
X-linked hereditary disease(parent)
Hereditary disorder of nervous system(parent)
Developmental hereditary disorder(parent)
Genetic intellectual disability(parent)

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.