HSD10 disease, neonatal type
ORPHA: 391457
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, neonatal type, sourced from HPO and Orphanet clinical annotations.
SeizureGlobal developmental delayHypertrophic cardiomyopathyMetabolic acidosisLactic acidosisAbnormal circulating enzyme concentration or activityAbnormal concentration of acylcarnitine in the urineAbnormality of the liverAbnormality of the coagulation cascade
Classification & Codes
Orphanet Code
ORPHA:391457HSD10 disease, neonatal type
| Orphanet | ORPHA:391457 |
| Treatments | 0 drug(s) |
| Symptoms on record | 9 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO