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 )

Relationships
is a type of: Coffin-Siris syndrome