Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
non-syndromic X-linked intellectual disability 106
Summary
- Synonym
-
- MRX106
- X-linked mental retardation 106
- Definition
- A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in OGT on chromosome Xq13.1.
- Super Class
- non-syndromic X-linked intellectual disability
External Links
- Disease Ontology
- DOID:0080240
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O15294 | UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0008734 | Decreased testicular size |
| HP:0000369 | Low-set ears |
| HP:0001263 | Global developmental delay |
| HP:0000252 | Microcephaly |
| HP:0004209 | Clinodactyly of the 5th finger |
| HP:0000646 | Amblyopia |
| HP:0001647 | Bicuspid aortic valve |
| HP:0000194 | Open mouth |
| HP:0000028 | Cryptorchidism |
| HP:0000639 | Nystagmus |
