Spinal Muscular Atrophy with Congenital Bone Fractures 2 (SMABF2)

Spinal Muscular Atrophy with Congenital Bone Fractures 2, also known as smabf2, is related to spinal muscular atrophy with congenital bone fractures 1 and spinal muscular atrophy. An important gene associated with Spinal Muscular Atrophy with Congenital Bone Fractures 2 is ASCC1 (Activating Signal Cointegrator 1 Complex Subunit 1). Affiliated tissues include bone and spinal cord, and related phenotypes are dysphagia and muscle weakness