Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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 disablity 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
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
