| Disease ID | Source | Name | Description |
| 618766 | OMIM | Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum (AMC4) | A form of arthrogryposis multiplex congenita, a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. AMC4 is an autosomal recessive, severe form with onset in utero. Patients manifest little or no fetal movements, significant contractures affecting the upper and lower limbs, dysmorphic facial features, optic atrophy, limb fractures, profound global developmental delay, seizures, and peripheral neuropathy. Many patients die in early childhood. The disease is caused by variants affecting the gene represented in this entry. |