arthrogryposis multiplex congenita-6 (DOID:0070336)
Alliance: disease page
Alt IDs: OMIM:619334
Definition: An arthrogryposis multiplex congenita characterized by congenital joint contractures, dysmorphic facial features, distal skeletal anomalies with clenched hands and clubfeet, and edema with fetal hydrops and that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23.