Early-onset epilepsy, intellectual disability, brain anomalies syndrome

disorder

SNOMED 1172627007CUI C5567479

Overview

Early-onset epilepsy, intellectual disability, brain anomalies 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.

Peripheral hypotonia

Very frequent (80-99%)HP:0001252

Seizures

Very frequent (80-99%)HP:0001250

Severe psychomotor retardation

Very frequent (80-99%)HP:0011344

Abnormality of balance

Frequent (30-79%)HP:0002141

Abnormality of lateral ventricle

Frequent (30-79%)HP:0030047

Deformity of face

Frequent (30-79%)HP:0001999

Delayed ability to walk

Frequent (30-79%)HP:0031936

Growth failure

Frequent (30-79%)HP:0001510

Hypoplasia of corpus callosum

Frequent (30-79%)HP:0002079

Hyporeflexia

Frequent (30-79%)HP:0001265

Inability to coordinate movements when walking

Frequent (30-79%)HP:0002066

Joint instability

Frequent (30-79%)HP:0001382

Small cerebellum

Frequent (30-79%)HP:0001321

Speech delay

Frequent (30-79%)HP:0000750

Autism spectrum disorder

Occasional (5-29%)HP:0000729

Decreased volume of upper lip

Occasional (5-29%)HP:0000219

Degeneration of cerebellum

Occasional (5-29%)HP:0001272

Depressed nasal root/bridge

Occasional (5-29%)HP:0005280

EEG with focal spikes

Occasional (5-29%)HP:0011193

Fallen arches

Occasional (5-29%)HP:0001763

Feeding difficulties

Occasional (5-29%)HP:0011968

Generalized tonic-clonic seizure (without specification of onset)

Occasional (5-29%)HP:0002069

Hyperextensible fingers

Occasional (5-29%)HP:0001187

Hypermobility of toe joints

Occasional (5-29%)HP:0010510

Hyperopia

Occasional (5-29%)HP:0000540

Increased distance between eyes

Occasional (5-29%)HP:0000316

Increased nasal width

Occasional (5-29%)HP:0000445

Muscle spasm

Occasional (5-29%)HP:0003394

No speech development

Occasional (5-29%)HP:0001344

Pes valgus

Occasional (5-29%)HP:0008081

Related Conditions

Global developmental delay(parent)

Carbohydrate-deficient glycoprotein syndrome(parent)

Developmental hereditary disorder(parent)

Recessive hereditary disorder (autosomal)(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1172627007
UMLS CUI: C5567479
Fully Specified Name: Early-onset epilepsy, intellectual disability, brain anomalies 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.