Severe neonatal hypotonia, seizures, encephalopathy syndrome due to 5q31.3 microdeletion

disorder

SNOMED 768555009CUI C4708510

Overview

Severe neonatal hypotonia, seizures, encephalopathy syndrome due to 5q31.3 microdeletion 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.

Brain imaging abnormality

Frequent (30-79%)HP:0410263

Brain wasting

Frequent (30-79%)HP:0012444

Decreased projection of mandible

Frequent (30-79%)HP:0000347

Delayed motor milestones

Frequent (30-79%)HP:0001270

Delayed myelination

Frequent (30-79%)HP:0012448

Depressed nasal root/bridge

Frequent (30-79%)HP:0005280

Electroencephalogram abnormal

Frequent (30-79%)HP:0002353

Eye drop

Frequent (30-79%)HP:0000508

Feeding difficulties in infancy

Frequent (30-79%)HP:0008872

High arched palate

Frequent (30-79%)HP:0000218

Hypotonia, in neonatal onset

Frequent (30-79%)HP:0001319

Increased intercanthal distance

Frequent (30-79%)HP:0000506

Laboured breathing

Frequent (30-79%)HP:0002098

Laterally sparse eyebrows

Frequent (30-79%)HP:0005338

Mental retardation, severe

Frequent (30-79%)HP:0010864

Narrow forehead

Frequent (30-79%)HP:0000341

Prominent frontal suture

Frequent (30-79%)HP:0005487

Prominent philtrum

Frequent (30-79%)HP:0002002

Speech and language difficulties

Frequent (30-79%)HP:0000750

Tented mouth

Frequent (30-79%)HP:0010804

Alveolar hypoventilation

Occasional (5-29%)HP:0002791

Apnea

Occasional (5-29%)HP:0002104

Apraxia of speech

Occasional (5-29%)HP:0011098

Aspiration pneumonia

Occasional (5-29%)HP:0011951

Bilateral tonic-clonic seizure with generalized onset

Occasional (5-29%)HP:0025190

Cardiac anomaly

Occasional (5-29%)HP:0001627

Down-slanting palpebral fissure

Occasional (5-29%)HP:0000494

Epilepsy

Occasional (5-29%)HP:0001250

Focal tonic seizure

Occasional (5-29%)HP:0011167

Jerking

Occasional (5-29%)HP:0001336

Related Conditions

Deletion of part of long arm of chromosome 5(parent)

Seizure disorder(parent)

Developmental disorder(parent)

Quick Facts

SNOMED CT: 768555009
UMLS CUI: C4708510
Fully Specified Name: 5q31.3 microdeletion 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.