Klippel-feil syndrome with nemaline myopathy and facial dysmorphism
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM | C4225285 | MYO18B | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 12547197, 18761673, 25748484, 27858739, 27879346 | - |