preferred_name: spinal muscular atrophy with congenital bone fractures 2
preferred_name_lc: spinal muscular atrophy with congenital bone fractures 2
label: prenatal-onset spinal muscular atrophy with congenital bone fractures caused by mutation in ASCC1
label_lc: prenatal-onset spinal muscular atrophy with congenital bone fractures caused by mutation in ascc1