# Norman–Roberts syndrome

> lissencephaly that has_material_basis_in homozygous mutation in the gene encoding reelin (RELN) on chromosome 7q22.

**Wikidata**: [Q130555](https://www.wikidata.org/wiki/Q130555)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Norman–Roberts_syndrome)  
**Source**: https://4ort.xyz/entity/norman-roberts-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. Freebase Data Dumps. 2013
4. UniProt
5. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000189056/MONDO_0009760)
7. BabelNet
8. [Identifiers.org](https://registry.identifiers.org/registry/doid)