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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, chromosome 2q32-q33 deletion syndrome, Glass syndrome, monosomy 2q32, monosomy 2q32-q33, monosomy 2q32q33
Xenbase Genes
:
satb2
| MONDO:0012864 - chromosome 2q32-q33 deletion syndrome |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
chromosomal deletion syndrome (is_a),
syndrome (is_a)