# hereditary spastic paraplegia 52

> hereditary spastic paraplegia that has material basis in mutation in the AP4S1 gene on chromosome 14q12

**Wikidata**: [Q32143154](https://www.wikidata.org/wiki/Q32143154)  
**Source**: https://4ort.xyz/entity/hereditary-spastic-paraplegia-52


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000100478/MONDO_0013552)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)