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Repository for lectin-assisted multimodality data
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MIRAGE
non-syndromic X-linked intellectual disability 30
Summary
- Synonym
-
- MRX30
- MRX47
- X-linked mental retardation 30
- X-linked mental retardation 30/47
- X-linked mental retardation 47
- Definition
- A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in the PAK3 gene on chromosome Xq23.
- Super Class
- X-linked recessive disease non-syndromic X-linked intellectual disability
External Links
- Disease Ontology
- DOID:0112051
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O75914 | Serine/threonine-protein kinase PAK 3 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| A3KGC5 | non-specific serine/threonine protein kinase (Fragment) |
