Kahrizi syndrome
MeSH: C567196ORPHA: 168972
Overview
autosomal recessive disease that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has material basis in mutation in the SRD5A3 gene
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Classification & Codes
MeSH Code
C567196Orphanet Code
ORPHA:168972Kahrizi syndrome
| MeSH | C567196 |
| Orphanet | ORPHA:168972 |
| Treatments | 0 drug(s) |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO