Transport and golgi organization 2 homolog-related metabolic encephalopathy, arrhythmia syndrome

disorder

SNOMED 1172698005CUI C5567524

Overview

Transport and golgi organization 2 homolog-related metabolic encephalopathy, 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.

Alanine aminotransferase increased

Always present (100%)HP:0031964

Brisk deep tendon reflexes

Always present (100%)HP:0001348

Difficulty articulating speech

Always present (100%)HP:0001260

Drooling

Always present (100%)HP:0002307

Elevated circulating aldolase concentration

Always present (100%)HP:0012544

Elevated serum aspartate aminotransferase

Always present (100%)HP:0031956

Metabolic acidosis

Always present (100%)HP:0001942

Myoglobinuria

Always present (100%)HP:0002913

Myopathic facial appearance

Always present (100%)HP:0002058

No development of motor milestones

Always present (100%)HP:0001270

Nonverbal

Always present (100%)HP:0001344

Prolonged seizure

Always present (100%)HP:0002133

Spasticity of lower limb

Always present (100%)HP:0002061

Unconsciousness

Always present (100%)HP:0001259

Breakdown of skeletal muscle

Very frequent (80-99%)HP:0003201

Cognitive delay

Very frequent (80-99%)HP:0001263

Dull intelligence

Very frequent (80-99%)HP:0001249

EKG abnormality

Very frequent (80-99%)HP:0003115

Elevated circulating tetradecenoylcarnitine concentration

Very frequent (80-99%)HP:6000476

Elevated serum creatine phosphokinase

Very frequent (80-99%)HP:0003236

EMG: myopathic changes

Very frequent (80-99%)HP:0003458

Increased blood lactate

Very frequent (80-99%)HP:0002151

Abnormal heart rate

Frequent (30-79%)HP:0011675

Abnormal liver enzymes

Frequent (30-79%)HP:0002910

Acute rhabdomyolysis

Frequent (30-79%)HP:0008942

Ataxia

Frequent (30-79%)HP:0001251

Cerebral atrophy

Frequent (30-79%)HP:0002059

Delayed ability to walk

Frequent (30-79%)HP:0031936

Epilepsy

Frequent (30-79%)HP:0001250

Extrapyramidal dysfunction

Frequent (30-79%)HP:0002071

Related Conditions

Hereditary degenerative disease of central nervous system(parent)

Cardiovascular system hereditary disorder(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of musculoskeletal system(parent)

Metabolic encephalopathy(parent)

Recurrent disease(parent)

Cardiac arrhythmia associated with genetic disorder(parent)

Recessive hereditary disorder (autosomal)(parent)

Rhabdomyolysis(parent)

Degenerative brain disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1172698005
UMLS CUI: C5567524
Fully Specified Name: Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability 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.