# cranio–lenticulo–sutural dysplasia

> Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia

**Wikidata**: [Q5182157](https://www.wikidata.org/wiki/Q5182157)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Cranio-lenticulo-sutural_dysplasia)  
**Source**: https://4ort.xyz/entity/cranio-lenticulo-sutural-dysplasia


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)