Overview
3-Hydroxyisobutyric aciduria 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.
Isolated hypogonadotropic hypogonadism
Very frequent (80-99%)HP:0000044
Lacticacidemia
Very frequent (80-99%)HP:0003128
Increased length of philtrum
Frequent (30-79%)HP:0000343
Inverted triangular face
Frequent (30-79%)HP:0000325
Microtia
Frequent (30-79%)HP:0008551
Abnormal deposits of calcium in the brain
Occasional (5-29%)HP:0002514
Cerebellar hypoplasia/atrophy
Occasional (5-29%)HP:0007360
Cerebral cortex atrophy
Occasional (5-29%)HP:0002120
Decreased size of cranium
Occasional (5-29%)HP:0000252
Dilated cerebral ventricle
Occasional (5-29%)HP:0002119
Hypoplastic mandible condyle
Occasional (5-29%)HP:0000347
Hypoplastic or absent corpus callosum
Occasional (5-29%)HP:0007370
Intrauterine growth retardation, IUGR
Occasional (5-29%)HP:0001511
Seizures
Occasional (5-29%)HP:0001250
Sloping forehead
Occasional (5-29%)HP:0000340
Abnormal urinary amino-acid findings
HP:0003355
Abnormality of neuronal migration
HP:0002269
Congenital intracerebral calcification
HP:0006906
Distortion of face
HP:0001999
Episodic ketoacidosis
HP:0005974
Ketoacidosis
HP:0001993
Postnatal failure to thrive
HP:0001508
Related Conditions
Quick Facts
- SNOMED CT
- 237957007
- UMLS CUI
- C0342737
- Fully Specified Name
- 3-Hydroxyisobutyric aciduria (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 22
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.