Infantile epileptic dyskinetic encephalopathy

disorder

SNOMED 771223000CUI C4552072

Overview

Infantile epileptic dyskinetic encephalopathy 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 size of cranium

Always present (100%)HP:0000252

Delay in head control

Always present (100%)HP:0002421

Delayed CNS myelination

Always present (100%)HP:0002188

EEG with burst suppression

Always present (100%)HP:0010851

Epileptic encephalopathy

Always present (100%)HP:0200134

Focal seizures

Always present (100%)HP:0007359

Generalised brain degeneration

Always present (100%)HP:0002283

Global developmental delay, severe

Always present (100%)HP:0011344

Hypsarrhythmia by EEG

Always present (100%)HP:0002521

Infantile spasms

Always present (100%)HP:0012469

Mental deficiency

Always present (100%)HP:0001249

Nanophthalmos

Always present (100%)HP:0000568

Poor eye contact

Always present (100%)HP:0000817

Psychomotor development deficiency

Always present (100%)HP:0001263

Rhomboid shaped head

Always present (100%)HP:0001357

Spasticity and rigidity of muscles

Always present (100%)HP:0001276

Tonic seizure

Always present (100%)HP:0032792

Corticospinal signs

Frequent (30-79%)HP:0007256

Erratic myoclonus

Frequent (30-79%)HP:0025357

Localized motor seizures

Frequent (30-79%)HP:0011153

Short penis

Frequent (30-79%)HP:0000054

Spastic tetraparesis

Frequent (30-79%)HP:0001285

Very poor growth

Frequent (30-79%)HP:0001510

Choreoathetoid movements

HP:0001266

Deglutition disorder

HP:0002015

Dilated cerebral ventricle

HP:0002119

Dyskinesia

HP:0100660

Dystonic disease

HP:0001332

Increased reflexes

HP:0001347

Myoclonic epilepsy, progressive

HP:0002123

Related Conditions

Dystonia(parent)

Hereditary disorder of nervous system(parent)

X-linked recessive hereditary disease(parent)

Developmental hereditary disorder(parent)

DEE - developmental and epileptic encephalopathy(parent)

Quick Facts

SNOMED CT: 771223000
UMLS CUI: C4552072
Fully Specified Name: Infantile epileptic dyskinetic encephalopathy (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.