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Coffin-Siris syndrome 6
Summary
- 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.
- Super Class
- Coffin-Siris syndrome
External Links
- Disease Ontology
- DOID:0080297
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q68CP9 | AT-rich interactive domain-containing protein 2 |
