HSD10 disease
ORPHA: 391417
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 HSD10 disease, sourced from HPO and Orphanet clinical annotations.
Abnormal urinary acylglycine profileProgressive visual lossDelayed speech and language developmentSeizureGlobal developmental delaySpecific learning disabilityModerate intellectual disabilityDevelopmental regressionElevated urinary 3-hydroxybutyric acidHearing impairmentOptic atrophyAtypical behaviorAutistic behaviorShort attention spanAtaxiaDysarthriaChoreoathetosisGait disturbanceMyoclonusChronic lactic acidosisFrontotemporal cerebral atrophyFocal white matter lesionsFloppy infantAbnormal social behaviorMicrocephalyNystagmusTremorHyperreflexiaDysphagiaRigidityVentriculomegalyDroolingSpastic paraparesisGastrointestinal dysmotilityNonprogressive encephalopathyPostnatal growth retardationNasogastric tube feeding in infancy
Classification & Codes
Orphanet Code
ORPHA:391417HSD10 disease
| Orphanet | ORPHA:391417 |
| Treatments | 0 drug(s) |
| Symptoms on record | 37 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO