| Term Name: | Coffin-Siris syndrome 10 |
|---|---|
| Synonyms: | 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. |
| Ontology: | Human Disease [DOID:0112371] ( DOID:0112371 ) |