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
syndromic X-linked intellectual disability Hedera type
Summary
- Synonym
-
- MRXE
- MRXSH
- X-linked mental retardation with epilepsy
- mental retardation, X-linked, syndromic, Hedera type
- Definition
- A syndromic X-linked intellectual disability characterized by mild to moderate mental retardation and epilepsy that has_material_basis_in mutation in the ATP6AP2 gene on chromosome Xp11.
- Super Class
- syndromic X-linked intellectual disability
External Links
- Disease Ontology
- DOID:0060806
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q96QS3 | Homeobox protein ARX |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002186 | Apraxia |
| HP:0001350 | Slurred speech |
| HP:0003438 | Absent Achilles reflex |
| HP:0001270 | Motor delay |
| HP:0002359 | Frequent falls |
| HP:0010529 | Echolalia |
| HP:0001763 | Pes planus |
| HP:0000750 | Delayed speech and language development |
| HP:0002317 | Unsteady gait |
| HP:0007076 | Extrapyramidal muscular rigidity |
