multiple epiphyseal dysplasia 7

ORPHA: 647676

Overview

multiple epiphyseal dysplasia that has material basis in homozygous mutation in the CANT1 gene on chromosome 17q25

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Classification & Codes

Orphanet Code

ORPHA:647676
multiple epiphyseal dysplasia 7
OrphanetORPHA:647676
Treatments0 drug(s)
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO