Term Name: | Coffin-Siris syndrome 6 |
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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 ) |