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syndromic X-linked intellectual disability 94
Summary
- Synonym
-
- MRX94
- MRXS29
- mental retardation, X-linked 94
- syndromic X-linked intellectual disability due to GRIA3 anomalies
- syndromic X-linked mental retardation 29
- syndromic X-linked mental retardation Wu type
- Definition
- A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has_material_basis_in mutation in the GRIA3 gene on chromosome Xq25.
- Super Class
- syndromic X-linked intellectual disability
External Links
- Disease Ontology
- DOID:0060823
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 8869 | ST3GAL5 | ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | |
| 9126 | SMC3 | structural maintenance of chromosomes 3 | |
| 9215 | LARGE1 | LARGE xylosyl- and glucuronyltransferase 1 | |
| 9487 | PIGL | phosphatidylinositol glycan anchor biosynthesis class L | |
| 9524 | TECR | trans-2,3-enoyl-CoA reductase | |
| 10466 | COG5 | component of oligomeric golgi complex 5 | |
| 10585 | POMT1 | protein O-mannosyltransferase 1 | |
| 11141 | IL1RAPL1 | interleukin 1 receptor accessory protein like 1 | |
| 11253 | MAN1B1 | mannosidase alpha class 1B member 1 | |
| 23443 | SLC35A3 | solute carrier family 35 member A3 |
Related Glycoprotein
