3 hydroxyisobutyric aciduria
MeSH: C535312ORPHA: 939
Overview
medical condition
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with 3 hydroxyisobutyric aciduria, sourced from HPO and Orphanet clinical annotations.
Hypogonadotropic hypogonadismLactic acidosisTriangular faceLong philtrumMicrotiaMicrocephalySloping foreheadMicrognathiaSeizureIntrauterine growth retardationVentriculomegalyCerebral cortical atrophyCerebral calcificationAplasia/Hypoplasia of the cerebellumAplasia/Hypoplasia of the corpus callosum
Classification & Codes
MeSH Code
C535312Orphanet Code
ORPHA:9393 hydroxyisobutyric aciduria
| MeSH | C535312 |
| Orphanet | ORPHA:939 |
| Treatments | 0 drug(s) |
| Symptoms on record | 15 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO