blepharophimosis-intellectual disability syndrome due to UBE3B deficiency
ORPHA: 329255
Overview
human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Classification & Codes
Orphanet Code
ORPHA:329255blepharophimosis-intellectual disability syndrome due to UBE3B deficiency
| Orphanet | ORPHA:329255 |
| Treatments | 0 drug(s) |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO