/spinal muscular atrophy with congenital bone fractures 1
spinal muscular atrophy with congenital bone fractures 1
Rare Disease
MONDO:0014806
Also Known As
SMABF1TRIP4 prenatal-onset spinal muscular atrophy with congenital bone fracturesprenatal-onset spinal muscular atrophy with congenital bone fractures caused by mutation in TRIP4spinal muscular atrophy with congenital bone fractures 1spinal muscular atrophy with congenital bone fractures type 1spinal muscular atrophy, type I, with congenital bone fracturesSMA1 with congenital bone fracturesspinal muscular atrophy type 1 with congenital bone fractures
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.
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