Term Name: | SATB2-associated syndrome |
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Synonyms: | 2q32-q33 microdeletion syndrome, 2q32q33 microdeletion syndrome, chromosome 2q32-q33 deletion syndrome, Glass syndrome, monosomy 2q32, monosomy 2q32-q33, monosomy 2q32q33 |
Definition: | A syndrome that has_material_basis_in genetic changes that affect the SATB2 gene and that is characterized by mild to severe intellectual disability, a delayed or absent ability to speak, severe speech anomalies, abnormalities of the palate, teeth anomalies, behavioral issues with or without bone or brain anomalies, and onset before age 2. |
Ontology: | Human Disease [DOID:0060428] ( DOID:0060428 ) |