Coenzyme Q2, polyprenyltransferase gene related-coenzyme Q10 deficiency

disorder

SNOMED 1366189009CUI C3551954

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.

Atrophic cerebellum

Always present (100%)HP:0001272

Central hypotonia

Always present (100%)HP:0001252

Cognitive delay

Always present (100%)HP:0001263

Decreased level of coenzyme Q10 in skeletal muscle

Always present (100%)HP:0034369

Deglutition disorder

Always present (100%)HP:0002015

Diffuse cerebral atrophy

Always present (100%)HP:0002506

Focal and segmental glomerulosclerosis

Always present (100%)HP:0000097

Frequent vomiting

Always present (100%)HP:0002572

Jerking

Always present (100%)HP:0001336

Loss of ambulation

Always present (100%)HP:0002505

Prolonged seizure

Always present (100%)HP:0002133

Proteinuria

Always present (100%)HP:0000093

Right hemiplegia

Always present (100%)HP:0040293

Tremor

Always present (100%)HP:0001337

Ataxia

HP:0001251

Cardiomyopathy, hypertrophic

HP:0001639

Decreased haemoglobin

HP:0001903

Delayed motor milestones

HP:0001270

Difficulty articulating speech

HP:0001260

Elevated circulating creatine phosphokinase

HP:0003236

Encephalopathy

HP:0001298

Explosive speech

HP:0002168

Glomerulosclerosis

HP:0000096

Hepatic insufficiency

HP:0001399

Involuntary, rapid, rhythmic eye movements

HP:0000639

Lacticacidemia

HP:0003128

Mental deficiency

HP:0001249

Nephrosis

HP:0000100

Pancytopenia

HP:0001876

Postural instability

HP:0002172

Related Conditions

Coenzyme Q10 deficiency(parent)

Quick Facts

SNOMED CT: 1366189009
UMLS CUI: C3551954
Fully Specified Name: Coenzyme Q2, polyprenyltransferase gene related-coenzyme Q10 deficiency (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.