| Metadata | |
|---|---|
| ID | DOID:0080297 |
| Name | Coffin-Siris syndrome 6 |
| 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 \nhas_material_basis_in heterozygous mutation in the ARID2 gene on chromosome 12q12. https://pubmed.ncbi.nlm.nih.gov/28124119/ |
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