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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 |
|---|---|---|---|
| 2218 | FKTN | fukutin | |
| 2517 | FUCA1 | alpha-L-fucosidase 1 | |
| 2645 | GCK | glucokinase | |
| 3155 | HMGCL | 3-hydroxy-3-methylglutaryl-CoA lyase | |
| 3340 | NDST1 | N-deacetylase and N-sulfotransferase 1 | |
| 3612 | IMPA1 | inositol monophosphatase 1 | |
| 3897 | L1CAM | L1 cell adhesion molecule | |
| 4247 | MGAT2 | alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | |
| 4360 | MRC1 | mannose receptor C-type 1 | |
| 4668 | NAGA | alpha-N-acetylgalactosaminidase |
Related Glycoprotein
