Overview
3-Methylglutaconic aciduria type 4 is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
3-Methylglutaconic aciduria
Very frequent (80-99%)HP:0003535
Central hypotonia
Very frequent (80-99%)HP:0001252
Cognitive delay
Very frequent (80-99%)HP:0001263
Involuntary muscle stiffness, contraction, or spasm
Very frequent (80-99%)HP:0001257
Mental deficiency
Very frequent (80-99%)HP:0001249
Poor weight gain
Very frequent (80-99%)HP:0001508
Seizures
Very frequent (80-99%)HP:0001250
Dysgenesis of the cerebellar vermis
Frequent (30-79%)HP:0002195
Decreased liver function
Occasional (5-29%)HP:0001410
Decreased size of cranium
Occasional (5-29%)HP:0000252
Disease of the heart muscle
Occasional (5-29%)HP:0001638
Hearing impairment
Occasional (5-29%)HP:0000365
Iris hypopigmentation
Occasional (5-29%)HP:0007730
Lacticacidosis
Occasional (5-29%)HP:0003128
Lens opacities
Occasional (5-29%)HP:0000518
Low blood sugar
Occasional (5-29%)HP:0001943
Thrombocytopenia
Occasional (5-29%)HP:0001873
3-methylglutaricaciduria
HP:0003344
Areflexia
HP:0001284
Biventricular hypertrophy
HP:0200128
Cerebellar dysplasia
HP:0007033
Congenital hypotonia
HP:0001319
Cryptorchidism
HP:0000028
Inguinal hernia
HP:0000023
Narrowing of blood vessel below aortic heart valve
HP:0001682
Respiratory distress, neonatal
HP:0002643
Severe psychomotor retardation
HP:0011344
Single flexion crease
HP:0000954
Quick Facts
- SNOMED CT
- 297233004
- UMLS CUI
- C1855126
- Fully Specified Name
- 3-Methylglutaconic aciduria type 4 (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.