Term Name: | Coffin-Siris syndrome 12 |
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Synonyms: | CSS12 |
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. |
Ontology: | Human Disease [DOID:0112370] ( DOID:0112370 ) |