spinal muscular atrophy with congenital bone fractures 2
Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the ASCC1 gene.
MONDO:0000209
prenatal-onset spinal muscular atrophy with congenital bone fractures
is_a
ASCC1 prenatal-onset spinal muscular atrophy with congenital bone fractures
exact
SMABF2
exact
prenatal-onset spinal muscular atrophy with congenital bone fractures caused by mutation in ASCC1
exact
spinal muscular atrophy with congenital bone fractures 2
exact
spinal muscular atrophy with congenital bone fractures type 2
exact
SPBC15D4.13c