spinal muscular atrophy with lower extremity predominant 2B (DOID:0070350)
Alliance: disease page
Synonyms: spinal muscular atrophy with lower extremity predominance 2B
Alt IDs: OMIM:618291
Definition: A spinal muscular atrophy with lower extremity predominance that is characterized by decreased fetal movements and are congenital contractures consistent with arthrogryposis multiplex congenita and that has_material_basis_in heterozygous mutation in the BICD2 gene on chromosome 9q22.