| Disease ID | Source | Name | Description |
| 617760 | OMIM | Myopathy, centronuclear, 6, with fiber-type disproportion (CNM6) | A form of centronuclear myopathy, a congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. CNM6 is an autosomal recessive, slowly progressive form with onset in infancy or early childhood. The disease is caused by variants affecting the gene represented in this entry. |
| 616890 | OMIM | Split-foot malformation with mesoaxial polydactyly (SFMMP) | An autosomal recessive disorder characterized by a split-foot defect, mesoaxial polydactyly, nail abnormalities of the hands, and sensorineural hearing loss. The disease is caused by variants affecting the gene represented in this entry. |