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SATB2-associated syndrome
Summary
- Synonym
-
- 2q32-q33 microdeletion syndrome
- 2q32q33 microdeletion syndrome
- Glass syndrome
- chromosome 2q32-q33 deletion 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.
- Super Class
- chromosomal deletion syndrome syndrome
External Links
- Disease Ontology
- DOID:0060428
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P04156 | Major prion protein | |
| P43034 | Platelet-activating factor acetylhydrolase IB subunit beta | |
| Q5H8C1 | FRAS1-related extracellular matrix protein 1 |
