| Disease ID | Source | Name | Description |
| 612998 | OMIM | Emery-Dreifuss muscular dystrophy 4, autosomal dominant (EDMD4) | A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects. The disease is caused by variants affecting the gene represented in this entry. |
| 618484 | OMIM | Arthrogryposis multiplex congenita, myogenic type (AMCM) | A form of arthrogryposis multiplex congenita, a heterogeneous group of disorders characterized by multiple joint contractures resulting, in some cases, from reduced or absent fetal movements. AMCM is an autosomal recessive form characterized by decreased fetal movements, muscular hypotonia, delayed motor development, loss of ambulation, variable skeletal defects, and persistent contractures of interphalangeal joints. The disease is caused by variants affecting the gene represented in this entry. |
| 610743 | OMIM | Spinocerebellar ataxia, autosomal recessive, 8 (SCAR8) | A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR8 is an autosomal recessive form. The disease is caused by variants affecting the gene represented in this entry. |