spinal muscular atrophy with lower extremity predominant 2B

Summary

DOID:0070350 - spinal muscular atrophy with lower extremity predominant 2B

Disease Ontology 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.

Synonyms: spinal muscular atrophy with lower extremity predominance 2B,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): spinal muscular atrophy with lower extremity predominant (is_a)