GNB5-related intellectual disability, cardiac arrhythmia syndrome

disorder

SNOMED 1186711002CUI C5568877

Overview

GNB5-related intellectual disability, cardiac arrhythmia 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.

Low intelligence

Always present (100%)HP:0001249

Cardiovascular disease

Very frequent (80-99%)HP:0001626

Cognitive delay

Very frequent (80-99%)HP:0001263

Abnormal ERG

Frequent (30-79%)HP:0000512

Abnormal heart rate

Frequent (30-79%)HP:0011675

Bradycardia

Frequent (30-79%)HP:0001662

Central hypotonia

Frequent (30-79%)HP:0001252

Gastroesophageal reflux disease

Frequent (30-79%)HP:0002020

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Mental retardation, severe

Frequent (30-79%)HP:0010864

Nonverbal

Frequent (30-79%)HP:0001344

Seizures

Frequent (30-79%)HP:0001250

Sinoatrial node disease

Frequent (30-79%)HP:0011704

Speech and language difficulties

Frequent (30-79%)HP:0000750

Ventricular escape rhythm

Frequent (30-79%)HP:0005155

Delay in head control

Occasional (5-29%)HP:0002421

Fine motor skill dysfunction

Occasional (5-29%)HP:0007010

Hypsarrhythmia by EEG

Occasional (5-29%)HP:0002521

Keratoconus

Occasional (5-29%)HP:0000563

Lengthened PR interval on EKG

Occasional (5-29%)HP:0012248

PFO

Occasional (5-29%)HP:0001655

Poor eye contact

Occasional (5-29%)HP:0000817

Retinal degeneration

Occasional (5-29%)HP:0000546

Related Conditions

Cardiovascular system hereditary disorder(parent)

Developmental hereditary disorder(parent)

Cardiac arrhythmia associated with genetic disorder(parent)

Recessive hereditary disorder (autosomal)(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1186711002
UMLS CUI: C5568877
Fully Specified Name: G protein subunit beta 5-related intellectual disability, cardiac arrhythmia syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 23

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.