arthrogryposis multiplex congenita-3 (DOID:0080979)
Alliance: disease page
Alt IDs: OMIM:618484
Definition: An arthrogryposis multiplex congenita that is characterized by decreased fetal movements, hypotonia, variable skeletal defects, including clubfoot and scoliosis, and delayed motor milestones with difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SYNE1 gene on chromosome 6q25.