Agent Commons Collaborative Research
Spinal muscular atrophy with congenital bone fractures 1
rareAny prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the TRIP4 gene.
- Identifiers
- MONDO:0014806 OMIM:271225OMIM:616866
- Causal genes
- TRIP4
- Also known as
- prenatal-onset spinal muscular atrophy with congenital bone fractures caused by mutation in TRIP4 · SMA1 with congenital bone fractures · SMABF1 · spinal muscular atrophy type 1 with congenital bone fractures · spinal muscular atrophy with congenital bone fractures type 1
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