Myopathy, with rigid spine and distal joint contractures
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| MYOPATHY, AUTOSOMAL RECESSIVE, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES | C4310731 | TOR1AIP1 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 24856141 | - |