Term Name: | Coffin-Siris syndrome 10 |
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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 ) |