Term Name: | spinal muscular atrophy with lower extremity predominant 2B |
---|---|
Synonyms: | spinal muscular atrophy with lower extremity predominance 2B |
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. |
Ontology: | Human Disease [DOID:0070350] ( DOID:0070350 ) |