Overview
Glycerol kinase deficiency - isolated 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.
Abnormal electromyography finding
Very frequent (80-99%)HP:0003457
Abnormal vocalization
Very frequent (80-99%)HP:0002167
Decreased body height
Very frequent (80-99%)HP:0004322
Diminished deep tendon reflexes
Very frequent (80-99%)HP:0001315
Elevated circulating creatine phosphokinase
Very frequent (80-99%)HP:0003236
Metabolic acidosis
Very frequent (80-99%)HP:0001942
Myopathy
Very frequent (80-99%)HP:0003198
Peripheral hypotonia
Very frequent (80-99%)HP:0001252
Poor school performance
Very frequent (80-99%)HP:0001249
Psychomotor development deficiency
Very frequent (80-99%)HP:0001263
Small adrenal cortex
Very frequent (80-99%)HP:0008182
Cobb angle greater than ten degrees
Frequent (30-79%)HP:0002650
Cryptorchidism
Frequent (30-79%)HP:0000028
Electroencephalogram abnormal
Frequent (30-79%)HP:0002353
Epilepsy
Frequent (30-79%)HP:0001250
Osteoporosis
Frequent (30-79%)HP:0000939
Prominent swayback
Frequent (30-79%)HP:0003307
Related Conditions
Quick Facts
- SNOMED CT
- 297256008
- UMLS CUI
- C0574108
- Fully Specified Name
- Glycerol kinase deficiency - isolated (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 17
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.