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 )

Relationships
is a type of: spinal muscular atrophy with lower extremity predominant