rhizomelic chondrodysplasia punctata type 2
ORPHA: 309796
Overview
rhizomelic chondrodysplasia punctata that has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the GNPAT gene on chromosome 1q42.2
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Classification & Codes
Orphanet Code
ORPHA:309796rhizomelic chondrodysplasia punctata type 2
| Orphanet | ORPHA:309796 |
| Treatments | 0 drug(s) |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO