| Term Name: | Coffin-Siris syndrome 6 |
|---|---|
| Synonyms: | |
| Definition: | A Coffin-Siris syndrome that is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies and that has_material_basis_in heterozygous mutation in the ARID2 gene on chromosome 12q12. |
| Ontology: | Human Disease [DOID:0080297] ( DOID:0080297 ) |