/spinal muscular atrophy with congenital bone fractures 2
spinal muscular atrophy with congenital bone fractures 2
Rare Disease
MONDO:0014807
Also Known As
ASCC1 prenatal-onset spinal muscular atrophy with congenital bone fracturesSMABF2prenatal-onset spinal muscular atrophy with congenital bone fractures caused by mutation in ASCC1spinal muscular atrophy with congenital bone fractures 2spinal muscular atrophy with congenital bone fractures type 2
Definition
Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the ASCC1 gene.
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