1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0112371 | Coffin-Siris syndrome 10 | 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. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0050736 | autosomal dominant disease | An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease. |
