# L1 syndrome

> hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range

**Wikidata**: [Q6714500](https://www.wikidata.org/wiki/Q6714500)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/MASA_syndrome)  
**Source**: https://4ort.xyz/entity/l1-syndrome


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. [Source](https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2466)
4. UniProt
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000198910/MONDO_0010559)
6. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)