| Disease ID | Source | Name | Description |
| 255995 | OMIM | Myopathy, congenital, Bailey-Bloch (MYPBB) | An autosomal recessive disease characterized by congenital weakness and arthrogryposis, cleft palate, ptosis, short stature, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia provoked by anesthesia. The disease is caused by variants affecting the gene represented in this entry. |