Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001419 | X-linked recessive inheritance |
| HP:0000486 | Strabismus |
| HP:0009909 | Uplifted earlobe |
| HP:0000717 | Autism |
| HP:0100710 | Impulsivity |
| HP:0000664 | Synophrys |
| HP:0002342 | Intellectual disability, moderate |
| HP:0000303 | Mandibular prognathia |
| HP:0001250 | Seizure |
