# schizencephaly

> rare birth defect characterized by abnormal clefts lined with grey matter that form the ependyma of the cerebral ventricles to the pia mater.

**Wikidata**: [Q1457267](https://www.wikidata.org/wiki/Q1457267)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Schizencephaly)  
**Source**: https://4ort.xyz/entity/schizencephaly


## References

1. Monarch Disease Ontology release 2018-06-29
2. Human Phenotype Ontology release 2018-03-08
3. Freebase Data Dumps. 2013
4. UniProt
5. Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly
6. Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly.
7. Maternally inherited heterozygous sequence change in the sonic hedgehog gene in a male patient with bilateral closed-lip schizencephaly and partial absence of the corpus callosum
8. Quora
9. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)