# hereditary spastic paraplegia 51

> hereditary spastic paraplegia that has material basis in mutation in the AP4E1 gene on chromosome 15q21

**Wikidata**: [Q32143147](https://www.wikidata.org/wiki/Q32143147)  
**Source**: https://4ort.xyz/entity/hereditary-spastic-paraplegia-51


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000081014/MONDO_0013401)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)