label: Autosomal Dominant Childhood-Onset Lower Extremity-Predominant Spinal Muscular Atrophy-2A
label_lc: autosomal dominant childhood-onset lower extremity-predominant spinal muscular atrophy-2a
description: An autosomal dominant type of spinal muscular atrophy caused by mutation(s) in the BICD2 gene, encoding protein bicaudal D homolog 2.