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General Information
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| Term |
SATB2-associated syndrome |
ID (Ontology) |
DOID:0060428 (Human Disease) |
| 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. |
| Also Known As |
"2q32-q33 microdeletion syndrome" ; "2q32q33 microdeletion syndrome" ; "chromosome 2q32-q33 deletion syndrome" (for all, see Synonyms field below) |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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| Data Class | Field | Records |
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| Alleles (FBal) | HUMAN_DISEASE_INTERACTIONS | 5 | | Human Disease Models (FBhh) | DOID | 1 |
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Alleles | Genes | Human Disease Models |
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SATB2-associated syndrome | 5 | 2 | 1 | for disease ribbon | SATB2-associated syndrome | -- | 1 | -- | model of | SATB2-associated syndrome | 5 | 1 | -- |
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Relationships