Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome

disorder

SNOMED 442511009CUI C1850055

Overview

Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy 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.

Abnormal palate morphology

Very frequent (80-99%)HP:0000174

Abnormal upper lip morphology

Very frequent (80-99%)HP:0000177

Abnormality of movement

Very frequent (80-99%)HP:0100022

Cerebral cortex atrophy

Very frequent (80-99%)HP:0002120

Chubby cheeks

Very frequent (80-99%)HP:0000293

Decreased width of the skull

Very frequent (80-99%)HP:0004422

Dysplastic ears

Very frequent (80-99%)HP:0000377

Electroencephalogram abnormal

Very frequent (80-99%)HP:0002353

Eye movement issue

Very frequent (80-99%)HP:0000496

Feeding difficulties

Very frequent (80-99%)HP:0011968

Hypotrophic midface

Very frequent (80-99%)HP:0011800

Hypsarrhythmia by EEG

Very frequent (80-99%)HP:0002521

Increased reflexes

Very frequent (80-99%)HP:0001347

Infantile spasms

Very frequent (80-99%)HP:0012469

Large ears

Very frequent (80-99%)HP:0000400

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Mental retardation, severe

Very frequent (80-99%)HP:0010864

Optic atrophy

Very frequent (80-99%)HP:0000648

Palpebronasal fold

Very frequent (80-99%)HP:0000286

Seizures

Very frequent (80-99%)HP:0001250

Severe muscular hypotonia

Very frequent (80-99%)HP:0006829

Slack jawed appearance

Very frequent (80-99%)HP:0000194

Sleepy

Very frequent (80-99%)HP:0002329

Small nose

Very frequent (80-99%)HP:0003196

Tapering fingers

Very frequent (80-99%)HP:0001182

Visual loss

Very frequent (80-99%)HP:0000572

Zygomatic flattening

Very frequent (80-99%)HP:0000272

Brainstem atrophy

Frequent (30-79%)HP:0007366

Cavity within brain

Frequent (30-79%)HP:0002132

Decreased size of cranium

Frequent (30-79%)HP:0000252

Related Conditions

Chronic brain syndrome(parent)

Degenerative brain disorder(parent)

Hereditary lymphedema(parent)

Autosomal hereditary disorder(parent)

Seizure disorder(parent)

Inherited optic neuropathy(parent)

Hereditary degenerative disease of central nervous system(parent)

Quick Facts

SNOMED CT: 442511009
UMLS CUI: C1850055
Fully Specified Name: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome (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.