spinal muscular atrophy with lower extremity predominant 2A

Summary

DOID:0070349 - spinal muscular atrophy with lower extremity predominant 2A

Disease Ontology Definition:A spinal muscular atrophy with lower extremity predominance that is characterized by early childhood onset of muscle weakness and atrophy predominantly affecting the proximal and distal muscles of the lower extremity, although some patients may show upper extremity involvement and that has_material_basis_in heterozygous mutation in the BICD2 gene on chromosome 9q22.

Synonyms: spinal muscular atrophy with lower extremity predominance 2A

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

: bicd2l, bicd2

Other Model Organisms: Alliance, 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)