Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome

disorder

SNOMED 1169356004CUI C5567229

Overview

Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain 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.

Appendicular spasticity

Always present (100%)HP:0034353

Cortical gyral simplification

Always present (100%)HP:0009879

Decreased size of cranium

Always present (100%)HP:0000252

Encephalopathy

Always present (100%)HP:0001298

Extra-axial cerebrospinal fluid accumulation

Always present (100%)HP:0012510

Feeding difficulties

Always present (100%)HP:0011968

Hearing impairment

Always present (100%)HP:0000365

Cerebral cortex atrophy

Frequent (30-79%)HP:0002120

Corpus callosum agenesis, partial

Frequent (30-79%)HP:0001338

CVI

Frequent (30-79%)HP:0100704

Deglutition disorder

Frequent (30-79%)HP:0002015

Dilated cerebral ventricle

Frequent (30-79%)HP:0002119

Dystonic disease

Frequent (30-79%)HP:0001332

Epilepsy

Frequent (30-79%)HP:0001250

Gastro-esophageal reflux

Frequent (30-79%)HP:0002020

Gastrostomy tube feeding in infancy

Frequent (30-79%)HP:0011471

Global developmental delay, severe

Frequent (30-79%)HP:0011344

Hyperintensity of cerebral white matter on MRI

Frequent (30-79%)HP:0030890

Hypoplasia of the optic tract

Frequent (30-79%)HP:0007096

Involuntary jerking movements

Frequent (30-79%)HP:0001336

Involuntary muscle stiffness, contraction, or spasm

Frequent (30-79%)HP:0001257

Optic chiasm hypoplasia

Frequent (30-79%)HP:0034311

Pontine hypoplasia

Frequent (30-79%)HP:0012110

Scoliosis

Frequent (30-79%)HP:0002650

Small cerebellum

Frequent (30-79%)HP:0001321

Small skull present at birth

Frequent (30-79%)HP:0011451

Truncal hypotonia

Frequent (30-79%)HP:0008936

Absence of corpus callosum

Occasional (5-29%)HP:0001274

Hypsarrhythmia by EEG

Occasional (5-29%)HP:0002521

Increased amniotic fluid index

Occasional (5-29%)HP:0001561

Related Conditions

Global developmental delay(parent)

Genetic disease(parent)

Chronic brain syndrome(parent)

Hearing loss associated with syndrome(parent)

Degenerative brain disorder(parent)

Quick Facts

SNOMED CT: 1169356004
UMLS CUI: C5567229
Fully Specified Name: Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain 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.