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Combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia
disorderSNOMED 713401006CUI C5574940
Overview
Combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia 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.
Epilepsy
Always present (100%)HP:0001250
L-2-hydroxyglutaric aciduria
Always present (100%)HP:0040144
Mental and motor retardation
Always present (100%)HP:0001263
Muscular hypotonia
Always present (100%)HP:0001252
Increased urine alpha-ketoglutarate concentration
Very frequent (80-99%)HP:0012402
Increased urine succinate level
Very frequent (80-99%)HP:0033092
CVI
Occasional (5-29%)HP:0100704
Decreased size of cranium
Occasional (5-29%)HP:0000252
Enlarged liver
Occasional (5-29%)HP:0002240
Increased size of skull
Occasional (5-29%)HP:0000256
Delayed myelination
HP:0012448
Dilated cerebral ventricle
HP:0002119
Elevated CSF D-2-hydroxyglutaric acid concentration
HP:6000246
Elevated CSF L-2-hydroxyglutaric acid concentration
HP:6000509
Encephalopathy
HP:0001298
Feeding difficulties
HP:0011968
Irritable mood
HP:0000737
Panting
HP:0002094
Poor eye contact
HP:0000817
Respiratory function loss
HP:0002093
Severe muscular hypotonia
HP:0006829
Small cerebellum
HP:0001321
Stridor
HP:0010307
Quick Facts
- SNOMED CT
- 713401006
- UMLS CUI
- C5574940
- Fully Specified Name
- Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria (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.