Coffin-Siris syndrome 6 (DOID:0080297)
Alliance: disease page
Alt IDs: OMIM:617808
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.