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Disease Ontology Browser
SATB2-associated syndrome (DOID:0060428)
Alliance: disease page
Synonyms: 2q32-q33 microdeletion syndrome; 2q32q33 microdeletion syndrome; chromosome 2q32-q33 deletion syndrome; Glass syndrome; monosomy 2q32; monosomy 2q32-q33; monosomy 2q32q33
Alt IDs: OMIM:612313, ICD10CM:Q93.5, MESH:C567350, ORDO:251019
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory