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autosomal recessive intellectual developmental disorder
Summary
- Synonym
-
- autosomal recessive mental retardation
- autosomal recessive non-syndromic mental retardation
- Definition
- A intellectual disability characterized by an autosomal recessive inheritance pattern.
- Super Class
- autosomal recessive disease intellectual disability
External Links
- Disease Ontology
- DOID:0060308
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 4913 | NTHL1 | nth like DNA glycosylase 1 | |
| 6487 | ST3GAL3 | ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | |
| 7991 | TUSC3 | tumor suppressor candidate 3 | |
| 9524 | TECR | trans-2,3-enoyl-CoA reductase | |
| 80055 | PGAP1 | post-GPI attachment to proteins inositol deacylase 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q11203 | CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase | |
| Q13454 | Tumor suppressor candidate 3 | |
| Q75T13 | GPI inositol-deacylase | |
| Q9NZ01 | Very-long-chain enoyl-CoA reductase |
