Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Summary Literature (0)
MIM:615290 - SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT; SMALED2A

Xenbase Genes: bicd2l, bicd2

Human Disease Resource: MIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014121 - autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
MONDO:0018190 - autosomal dominant childhood-onset proximal spinal muscular atrophy

Disease Ontology (DO):
DOID:0070349 - spinal muscular atrophy with lower extremity predominant 2A