Search Ontology:
Human Disease
Coffin-Siris syndrome 10
- Term ID
- DOID:0112371
- Synonyms
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- CSS10
- Definition
- A Coffin-Siris syndrome characterized by mild to severe intellectual disability, global developmental delay, mild but distinct facial dysmorphism, fifth finger clinodactyly, and small stature that has_material_basis_in heterozygous mutation in the SOX4 gene on chromosome 6p22.3. https://pubmed.ncbi.nlm.nih.gov/30661772/
- References
- Ontology
- Human Disease ( DOID:0112371 )
- is a type of
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Genes Involved
Zebrafish Models