| Metadata | |
|---|---|
| ID | DOID:0060428 |
| Name | SATB2-associated syndrome |
| 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. https://ghr.nlm.nih.gov/condition/satb2-associated-syndrome, https://www.ncbi.nlm.nih.gov/books/NBK458647/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
2q32-q33 microdeletion syndrome [EXACT] 2q32q33 microdeletion syndrome [EXACT] chromosome 2q32-q33 deletion syndrome [EXACT] Glass syndrome [EXACT] monosomy 2q32 [EXACT] monosomy 2q32-q33 [EXACT] monosomy 2q32q33 [EXACT] |
| Parent Relationships |
is_a syndrome |