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craniolenticulosutural dysplasia
Summary
- Synonym
-
- Boyadjiev-Jabs Syndrome
- cranio-lenticulo-sutural dysplasia, CLSD
- Definition
- A syndrome in neonates that is characterized by facial dysmorphism, late-closing fontanels, cataract, and skeletal defects. It has_material_basis_in the mutation of the SEC23A gene on the 14th chromosome, with the underproduction in the collagen secreting pathway and distension of endoplasmic reticulum leading to bone defects.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0070307
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q15436 | Protein transport protein Sec23A |
