Ring chromosome 20 syndrome

disorder

SNOMED 23686004CUI C0265482

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Electroencephalogram abnormal

Very frequent (80-99%)HP:0002353

Non-convulsive status epilepticus without coma

Very frequent (80-99%)HP:0032671

Behavioral changes

Frequent (30-79%)HP:0000708

Epileptic encephalopathy

Frequent (30-79%)HP:0200134

Intellectual deterioration

Frequent (30-79%)HP:0001268

Localized motor seizures

Frequent (30-79%)HP:0011153

Nocturnal seizures

Frequent (30-79%)HP:0031951

Growth deficiency

Occasional (5-29%)HP:0001510

Mental deficiency

Occasional (5-29%)HP:0001249

Neurodevelopmental delay

Occasional (5-29%)HP:0012758

Poor attention span

Occasional (5-29%)HP:0000736

Specific learning disability

Occasional (5-29%)HP:0001328

Related Conditions

Anomaly of chromosome pair 20(parent)

Ring chromosome(parent)

Multiple system malformation syndrome(parent)

Quick Facts

SNOMED CT: 23686004
UMLS CUI: C0265482
Fully Specified Name: Ring chromosome 20 syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 12

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.