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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 |
|---|---|---|---|
| 79944 | L2HGDH | L-2-hydroxyglutarate dehydrogenase | |
| 80055 | PGAP1 | post-GPI attachment to proteins inositol deacylase 1 | |
| 81562 | LMAN2L | lectin, mannose binding 2 like | |
| 84720 | PIGO | phosphatidylinositol glycan anchor biosynthesis class O | |
| 84992 | PIGY | phosphatidylinositol glycan anchor biosynthesis class Y | |
| 91869 | RFT1 | RFT1 homolog | |
| 93210 | PGAP3 | post-GPI attachment to proteins phospholipase 3 | |
| 139189 | DGKK | diacylglycerol kinase kappa | |
| 148789 | B3GALNT2 | beta-1,3-N-acetylgalactosaminyltransferase 2 | |
| 199857 | ALG14 | ALG14 UDP-N-acetylglucosaminyltransferase subunit |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9Y6A1 | Protein O-mannosyl-transferase 1 |
