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craniosynostosis 7
Summary
- Synonym
-
- CRS7
- Definition
- A craniosynostosis characterized by skull deformity and the inability of the skull's growth to keep up with the developing brain that has_material_basis_in a weakly penetrant heterozygous mutation in the SMAD6 gene on chromosome 15q22, typically with the risk allele of a common variant near the BMP2 gene on chromosome 20p12, resulting in potential intracranial pressure elevation.
- Super Class
- craniosynostosis digenic disease
External Links
- Disease Ontology
- DOID:0060912
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O43541 | Mothers against decapentaplegic homolog 6 |
