Spinal muscular atrophy with congenital bone fractures 2

rare

Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the ASCC1 gene.

Identifiers: MONDO:0014807 OMIM:616867
Causal genes: ASCC1
Part of: Prenatal-onset spinal muscular atrophy with congenital bone fractures
Also known as: ASCC1 prenatal-onset spinal muscular atrophy with congenital bone fractures · prenatal-onset spinal muscular atrophy with congenital bone fractures caused by mutation in ASCC1 · SMABF2 · spinal muscular atrophy with congenital bone fractures type 2

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