Spinal muscular atrophy with congenital bone fractures 1
Spinal muscular atrophy with congenital bone fractures 1
Definition
Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the TRIP4 gene.
Also known as prenatal-onset spinal muscular atrophy with congenital bone fractures caused by mutation in TRIP4, SMABF1, spinal muscular atrophy with congenital bone fractures 1, spinal muscular atrophy with congenital bone fractures type 1, spinal muscular atrophy, type I, with congenital bone fractures, TRIP4 prenatal-onset spinal muscular atrophy with congenital bone fractures — per MONDO