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spinal muscular atrophy with congenital bone fractures 2

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the ASCC1 gene.
Uniprot Description An autosomal recessive neuromuscular disorder characterized by prenatal-onset spinal muscular atrophy, multiple congenital contractures consistent with arthrogryposis multiplex congenita, respiratory distress, and congenital bone fractures.
Mondo Term and Equivalent IDs
MONDO:0014807:  spinal muscular atrophy with congenital bone fractures 2
UMLS:C4225176: