Overview
By MedlinePlus, National Library of Medicine
Courtesy of the National Library of Medicine. Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
3-Methylglutaconic aciduria
Always present (100%)HP:0003535
Bronchitis, recurrent
Always present (100%)HP:0002837
Cardiomyopathy, hypertrophic
Always present (100%)HP:0001639
Cyclic neutropenia
Always present (100%)HP:0040289
Deep set eye
Always present (100%)HP:0000490
Delayed motor milestones
Always present (100%)HP:0001270
Growth deficiency
Always present (100%)HP:0001510
High forehead
Always present (100%)HP:0000348
Hypertrophy of cheeks
Always present (100%)HP:0000293
Hypochromic, microcytic anaemia
Always present (100%)HP:0004840
Increased left ventricular end-diastolic volume
Always present (100%)HP:0033755
Increased width of the forehead
Always present (100%)HP:0000337
Macrotia
Always present (100%)HP:0000400
Neutropoenia
Always present (100%)HP:0001875
Poor exercise tolerance
Always present (100%)HP:0003546
Postnatal failure to thrive
Always present (100%)HP:0001508
Round, full face
Always present (100%)HP:0000311
Small pointed chin
Always present (100%)HP:0000307
Tiredness
Always present (100%)HP:0012378
Towhead (hair color)
Always present (100%)HP:0002286
Tricuspid regurgitation
Always present (100%)HP:0005180
Stretched and thinned heart muscle
Very frequent (80-99%)HP:0001644
Abnormal mitochondrial morphology
Frequent (30-79%)HP:0008322
Abnormality of neutrophils
Frequent (30-79%)HP:0001874
Skeletal myopathy
Frequent (30-79%)HP:0003756
Fetal foot inversion
Occasional (5-29%)HP:0001762
Mental and motor retardation
Occasional (5-29%)HP:0001263
Myopathic facial appearance
Occasional (5-29%)HP:0002058
Positive Gower sign
Occasional (5-29%)HP:0003391
Abnormal heart rate
HP:0011675
Quick Facts
- SNOMED CT
- 297231002
- UMLS CUI
- C0574083
- Fully Specified Name
- 3-Methylglutaconic aciduria type 2 (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
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.