Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
D-2-hydroxyglutaric acidemia
Very frequent (80-99%)HP:0040146
D-2-hydroxyglutaric aciduria
Very frequent (80-99%)HP:0012321
Elevated CSF D-2-hydroxyglutaric acid concentration
Very frequent (80-99%)HP:6000246
Psychomotor development deficiency
Very frequent (80-99%)HP:0001263
Central hypotonia
Frequent (30-79%)HP:0001252
Seizures
Frequent (30-79%)HP:0001250
CVI
Occasional (5-29%)HP:0100704
Delayed myelination
Occasional (5-29%)HP:0012448
Dilated cerebral ventricle
Occasional (5-29%)HP:0002119
Disease of the heart muscle
Occasional (5-29%)HP:0001638
Encephalopathy
Occasional (5-29%)HP:0001298
Noisy breathing
Occasional (5-29%)HP:0010307
Speech difficulties
Occasional (5-29%)HP:0000750
Quick Facts
- SNOMED CT
- 237960000
- UMLS CUI
- C1833429
- Fully Specified Name
- D-2-hydroxyglutaric aciduria (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 13
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.