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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
- OMIM
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1583 | CYP11A1 | cytochrome P450 family 11 subfamily A member 1 | |
| 5048 | PAFAH1B1 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | |
| 5621 | PRNP | prion protein (Kanno blood group) | |
| 79661 | NEIL1 | nei like DNA glycosylase 1 | |
| 158326 | FREM1 | FRAS1 related extracellular matrix 1 |
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 |
