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chromosome 15q24 deletion syndrome
Summary
- Synonym
-
- 15q24 microdeletion syndrome
- Definition
- A chromosomal deletion syndrome that is characterized by dysmorphic facial features, intellectual disability and seizure, has_material_basis_in autosomal dominant inheritance of mutation in the SIN3A gene causing partial deletion of the long arm of chromosome 15.
- Super Class
- autosomal dominant disease chromosomal deletion syndrome
External Links
- Disease Ontology
- DOID:0060395
- Mondo Disease Ontology
- MeSH
- ORDO
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q96ST3 | Paired amphipathic helix protein Sin3a |
