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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
non-syndromic X-linked intellectual disability 21
Summary
- Synonym
-
- MRX21
- MRX34
- X-linked mental retardation 21
- X-linked mental retardation 21/34
- X-linked mental retardation 34
- Definition
- A non-syndromic X-linked intellectual disability characterized by a spectrum of cognitive neurologic impairments ranging from moderate mental retardation to high-functioning autism that has_material_basis_in hemizygous mutation in the IL1RAPL1 gene on chromosome Xp21.3-p21.2.
- Super Class
- X-linked recessive disease non-syndromic X-linked intellectual disability
External Links
- Disease Ontology
- DOID:0112022
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9NZN1 | Interleukin-1 receptor accessory protein-like 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000678 | Dental crowding |
| HP:0003196 | Short nose |
| HP:0000316 | Hypertelorism |
| HP:0001382 | Joint hypermobility |
| HP:0000194 | Open mouth |
| HP:0001611 | Hypernasal speech |
| HP:0000582 | Upslanted palpebral fissure |
| HP:0010804 | Tented upper lip vermilion |
| HP:0000752 | Hyperactivity |
| HP:0000053 | Macroorchidism |
