Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
3-methylglutaricaciduria
Always present (100%)HP:0003344
Optic atrophy
Always present (100%)HP:0000648
3-Methylglutaconic aciduria
Very frequent (80-99%)HP:0003535
Choreoathetoid movements
Very frequent (80-99%)HP:0001266
Impaired vision
Very frequent (80-99%)HP:0000505
Ataxia
Frequent (30-79%)HP:0001251
Difficulty articulating speech
Frequent (30-79%)HP:0001260
Involuntary, rapid, rhythmic eye movements
Frequent (30-79%)HP:0000639
Mental deficiency
Frequent (30-79%)HP:0001249
Spastic paraparesis
Frequent (30-79%)HP:0002313
Gait disturbance
Occasional (5-29%)HP:0001288
Choreiform movements
HP:0002072
Cognitive deficits
HP:0100543
Decreased visual acuity
HP:0007663
Extensor plantar responses
HP:0003487
Extrapyramidal dysfunction
HP:0002071
Increased reflexes
HP:0001347
Involuntary muscle stiffness, contraction, or spasm
HP:0001257
Quick Facts
- SNOMED CT
- 297232009
- UMLS CUI
- C0574084
- Fully Specified Name
- 3-Methylglutaconic aciduria type 3 (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 18
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.