Hyperekplexia epilepsy syndrome

disorder

SNOMED 785726009CUI C5191643

Overview

Hyperekplexia epilepsy 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.

Developmental regression

Frequent (30-79%)HP:0002376

EEG with temporal focal spikes

Frequent (30-79%)HP:0012018

Epileptic encephalopathy

Frequent (30-79%)HP:0200134

Generalised tonic seizures

Frequent (30-79%)HP:0010818

Hyperekplexia

Frequent (30-79%)HP:0002267

Localized dyscognitive seizure

Frequent (30-79%)HP:0002384

Spasticity and rigidity of muscles

Frequent (30-79%)HP:0001276

Underdeveloped frontal lobe

Frequent (30-79%)HP:0007333

Triangular head shape

Occasional (5-29%)HP:0000243

Related Conditions

Hereditary disorder of nervous system(parent)

Disorder of muscle(parent)

Movement disorder(parent)

Developmental hereditary disorder(parent)

X-linked recessive hereditary disease(parent)

DEE - developmental and epileptic encephalopathy(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 785726009
UMLS CUI: C5191643
Fully Specified Name: Hyperekplexia epilepsy syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 9

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.