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Summary Literature (0)
DOID:0060428 - SATB2-associated syndrome


Disease Ontology 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.

Synonyms: 2q32-q33 microdeletion syndrome, 2q32q33 microdeletion syndrome, Glass syndrome, chromosome 2q32-q33 deletion syndrome, monosomy 2q32, monosomy 2q32-q33, monosomy 2q32q33

Referenced OMIM:
OMIM:612313 - GLASS SYNDROME; GLASS

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : satb2

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): chromosomal deletion syndrome (is_a), syndrome (is_a)


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