← Back to Conditions

3-Methylglutaconic aciduria type 2

disorder
SNOMED 297231002CUI C0574083

Overview

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
High forehead
Always present (100%)HP:0000348
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
No development of motor milestones
Always present (100%)HP:0001270
Poor exercise tolerance
Always present (100%)HP:0003546
Puffy cheeks
Always present (100%)HP:0000293
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
Undergrowth
Always present (100%)HP:0001508
Very poor growth
Always present (100%)HP:0001510
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
Cognitive delay
Occasional (5-29%)HP:0001263
Fetal foot inversion
Occasional (5-29%)HP:0001762
Gowers sign
Occasional (5-29%)HP:0003391
Myopathic facial appearance
Occasional (5-29%)HP:0002058
Cardiac arrhythmias
HP:0011675

Related Conditions

3-Methylglutaconic aciduria(parent)
X-linked recessive hereditary disease(parent)

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.