Spinal muscular atrophy with congenital bone fractures 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.

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 2, spinal muscular atrophy with congenital bone fractures type 2 — per MONDO

Also identified as

• OMIM 616867 per MONDO
• UMLS C4225176 per MONDO