# pseudo-TORCH syndrome

> autosomal recessive disease that is characterized by congenital microcephaly, intracranial calcifications, severe developmental delay, severe developmental delay, simplified gyration and polymicrogyria

**Wikidata**: [Q9390596](https://www.wikidata.org/wiki/Q9390596)  
**Source**: https://4ort.xyz/entity/pseudo-torch-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000197822/Orphanet_1229)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)