Coffin-Siris syndrome 12 (DOID:0112370)
Alliance: disease page
Synonyms: CSS12
Alt IDs: OMIM:619325
Definition: A Coffin-Siris syndrome characterized by global developmental delay with variably impaired intellectual development, speech and language delay, and behavioral abnormalities, such as autism or hyperactivity that has_material_basis_in heterozygous mutation in the BICRA gene on chromosome 19q13.33.