Epilepsy, cortical blindness, intellectual disability, facial dysmorphism syndrome

disorder

SNOMED 773548008CUI C4750952

Overview

Epilepsy, cortical blindness, intellectual disability, facial dysmorphism 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.

Broad, upturned nose

Frequent (30-79%)HP:0000455

Cortical blindness

Frequent (30-79%)HP:0100704

Difficulty speaking

Frequent (30-79%)HP:0002465

Fullness around the eyes

Frequent (30-79%)HP:0000629

Generalised tonic seizures

Frequent (30-79%)HP:0010818

Hypoplasia of corpus callosum

Frequent (30-79%)HP:0002079

Increased intercanthal distance

Frequent (30-79%)HP:0000506

Low anterior hairline

Frequent (30-79%)HP:0000294

Multifocal EEG abnormality

Frequent (30-79%)HP:0010841

Nonprogressive mental retardation

Frequent (30-79%)HP:0001249

Nostrils anteverted

Frequent (30-79%)HP:0000463

Occipital cortical atrophy

Frequent (30-79%)HP:0012105

Pontine hypoplasia

Frequent (30-79%)HP:0012110

Poor eye contact

Frequent (30-79%)HP:0000817

Abnormal spaced incisors

Occasional (5-29%)HP:0040159

Absence of eyeballs

Occasional (5-29%)HP:0000528

Bulbous nose

Occasional (5-29%)HP:0000414

Central hypotonia

Occasional (5-29%)HP:0001252

Complex partial seizures

Occasional (5-29%)HP:0002384

Convex bridge of nose

Occasional (5-29%)HP:0000426

Decreased height of philtrum

Occasional (5-29%)HP:0000322

Eclabium of lower lip

Occasional (5-29%)HP:0000232

Generalized non-motor (absence) seizure

Occasional (5-29%)HP:0002121

Hypsarrhythmia by EEG

Occasional (5-29%)HP:0002521

Inability to walk

Occasional (5-29%)HP:0002540

Increased length of eyelashes

Occasional (5-29%)HP:0000527

Infantile spasms

Occasional (5-29%)HP:0012469

Jerking

Occasional (5-29%)HP:0001336

Large helix

Occasional (5-29%)HP:0009904

Narrow forehead

Occasional (5-29%)HP:0000341

Related Conditions

Hereditary disorder of the visual system(parent)

Recessive hereditary disorder (autosomal)(parent)

Multiple malformation syndrome with facial defects as major feature(parent)

Hereditary disorder of nervous system(parent)

Cortical blindness(parent)

Disorder of visual pathways(parent)

Developmental hereditary disorder(parent)

DEE - developmental and epileptic encephalopathy(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 773548008
UMLS CUI: C4750952
Fully Specified Name: Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism 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.