Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
3-Methylglutaconic aciduria
Always present (100%)HP:0003535
Cognitive delay
Always present (100%)HP:0001263
Dystonic disease
Always present (100%)HP:0001332
Neurodevelopmental regression
Always present (100%)HP:0002376
Poor school performance
Always present (100%)HP:0001249
Higher than normal levels of lactate in blood
Very frequent (80-99%)HP:0002151
Involuntary muscle stiffness, contraction, or spasm
Very frequent (80-99%)HP:0001257
Sensorineural deafness
Very frequent (80-99%)HP:0000407
Brain wasting
Frequent (30-79%)HP:0012444
Increased serum alanine
Frequent (30-79%)HP:0003348
Decreased size of cranium
Occasional (5-29%)HP:0000252
Epilepsy
Occasional (5-29%)HP:0001250
Abnormality of the coagulation cascade
HP:0003256
Aplasia/Hypoplasia involving the central nervous system
HP:0002977
Central hypotonia
HP:0001252
Encephalopathy
HP:0001298
Extrapyramidal dysfunction
HP:0002071
Feeding difficulties
HP:0011968
Generalised decreased muscle tone
HP:0001290
High blood ammonia levels
HP:0001987
Inability to walk
HP:0002540
Infratentorial atrophy
HP:0001272
Lacticacidosis
HP:0003128
Low blood sugar
HP:0001943
Neonatal sepsis
HP:0040187
No speech development
HP:0001344
Optic atrophy
HP:0000648
Poor weight gain
HP:0001508
Susceptibility to infection
HP:0002719
Quick Facts
- SNOMED CT
- 711409002
- UMLS CUI
- C4040739
- Fully Specified Name
- 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 29
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.