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Glycomics MS Repository for glycan annotations from GlycoWorkbench
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Repository for lectin-assisted multimodality data
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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:0001263 | Global developmental delay |
| HP:0003623 | Neonatal onset |
| HP:0002067 | Bradykinesia |
| HP:0001250 | Seizure |
| HP:0002188 | Delayed CNS myelination |
