# autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures

> human disease

**Wikidata**: [Q55345873](https://www.wikidata.org/wiki/Q55345873)  
**Source**: https://4ort.xyz/entity/autosomal-dominant-childhood-onset-proximal-spinal-muscular-atrophy-with-contractures


## References

1. Monarch Disease Ontology release 2018-06-29
2. Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy
3. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000185963/MONDO_0014121)
4. UMLS 2023