Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Ataxia
Always present (100%)HP:0001251
L-2-hydroxyglutaric aciduria
Always present (100%)HP:0040144
Leukoencephalopathy
Always present (100%)HP:0002352
Brain inflammation
Very frequent (80-99%)HP:0002383
Mental retardation, severe
Very frequent (80-99%)HP:0010864
Nonprogressive mental retardation
Very frequent (80-99%)HP:0001249
Seizures
Very frequent (80-99%)HP:0001250
Behavioural/Psychiatric abnormality
Frequent (30-79%)HP:0000708
Central hypotonia
Frequent (30-79%)HP:0001252
Cerebellar hypoplasia/atrophy
Frequent (30-79%)HP:0007360
Extrapyramidal syndrome
Frequent (30-79%)HP:0002071
Large head
Frequent (30-79%)HP:0000256
Spastic tetraparesis
Frequent (30-79%)HP:0001285
Tumour of the nervous system
Frequent (30-79%)HP:0004375
Difficulty finding words
Occasional (5-29%)HP:0002381
Atrophy of the corpus callosum
HP:0007371
Corticospinal signs
HP:0007256
Deafness
HP:0000365
Excess astrocytes in brain
HP:0002171
Generalised brain degeneration
HP:0002283
Infratentorial atrophy
HP:0001272
Involuntary, rapid, rhythmic eye movements
HP:0000639
L-2-hydroxyglutaric acidemia
HP:0040147
Optic atrophy
HP:0000648
Psychomotor regression, progressive
HP:0002376
Pyramidal tract disease
HP:0002062
Severe demyelination of the white matter
HP:0007258
Squint
HP:0000486
Related Conditions
Quick Facts
- SNOMED CT
- 237961001
- UMLS CUI
- C1855995
- Fully Specified Name
- L-2-hydroxyglutaric aciduria (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 28
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.