| Disease ID | Source | Name | Description |
| 208100 | OMIM | Arthrogryposis multiplex congenita, neurogenic type (AMCN) | 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. AMCN is due to a neurogenic defect and is characterized by congenital immobility of the limbs with fixation of multiple joints, and muscle wasting. AMCN transmission pattern is consistent with autosomal recessive inheritance in several families. Penetrance may be incomplete in females. The disease is caused by variants affecting the gene represented in this entry. |