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
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LM-GlycomeAtlas
GALAXY
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Guidelines
MIRAGE
X-linked mental retardation Gustavson type
Summary
- Synonym
-
- mental retardation with optic atrophy, deafness and seizures
- Definition
- A syndromic X-linked intellectual disability that is characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness, severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death.
- Super Class
- syndromic X-linked intellectual disability
External Links
- Disease Ontology
- DOID:0081123
- Mondo Disease Ontology
- ORDO
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P38159 | RNA-binding motif protein, X chromosome |
