Genetic epilepsy with febrile seizures plus

disorder

SNOMED 699688008CUI C3502809

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Generalised-onset seizure

Very frequent (80-99%)HP:0002197

Febrile seizure (within the age range of 3 months to 6 years)

Frequent (30-79%)HP:0002373

Generalized non-motor (absence) seizure

Frequent (30-79%)HP:0002121

Ataxia

Occasional (5-29%)HP:0001251

Cortical dysplasia

Occasional (5-29%)HP:0002539

Drop attacks

Occasional (5-29%)HP:0010819

EEG with spike-wave complexes

Occasional (5-29%)HP:0010850

Fine motor skill dysfunction

Occasional (5-29%)HP:0007010

Generalized cerebral degeneration/underdevelopment

Occasional (5-29%)HP:0007058

Generalized myoclonic seizure

Occasional (5-29%)HP:0002123

Generalized tonic-clonic seizure (without specification of onset)

Occasional (5-29%)HP:0002069

Incoordination

Occasional (5-29%)HP:0002311

Intellectual impairment

Occasional (5-29%)HP:0100543

Mental deterioration in childhood

Occasional (5-29%)HP:0002376

Muscular hypotonia

Occasional (5-29%)HP:0001252

Obtundation status

Occasional (5-29%)HP:0011151

Anxiety disease

Very rare (1-4%)HP:0000739

ASD

Very rare (1-4%)HP:0000729

Dropped arches

Very rare (1-4%)HP:0001763

Focal seizures

Very rare (1-4%)HP:0007359

Limited knee extension

Very rare (1-4%)HP:0003066

Localized dyscognitive seizure

Very rare (1-4%)HP:0002384

Obsessive-compulsive trait

Very rare (1-4%)HP:0008770

Prolonged seizure

Very rare (1-4%)HP:0002133

Slowness of movements

Very rare (1-4%)HP:0002067

Talipes valgus

Very rare (1-4%)HP:0004684

Tibial torsion

Very rare (1-4%)HP:0100694

Tremor

Very rare (1-4%)HP:0001337

Related Conditions

Combined focal and generalised epilepsy(parent)

Autosomal dominant hereditary disorder(parent)

Hereditary disorder of nervous system(parent)

Quick Facts

SNOMED CT: 699688008
UMLS CUI: C3502809
Fully Specified Name: Genetic epilepsy with febrile seizures plus (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 28

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.