| Disease ID | Source | Name | Description |
| 616248 | OMIM | Lethal congenital contracture syndrome 6 (LCCS6) | A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non-progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. LCCS6 features include severe polyhydramnios and absent stomach, in addition to multiple contracture deformities. The disease is caused by variants affecting the gene represented in this entry. |