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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 |
|---|---|---|---|
| 4669 | NAGLU | N-acetyl-alpha-glucosaminidase | |
| 5160 | PDHA1 | pyruvate dehydrogenase E1 subunit alpha 1 | |
| 5279 | PIGC | phosphatidylinositol glycan anchor biosynthesis class C | |
| 5538 | PPT1 | palmitoyl-protein thioesterase 1 | |
| 6389 | SDHA | succinate dehydrogenase complex flavoprotein subunit A | |
| 6487 | ST3GAL3 | ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | |
| 7355 | SLC35A2 | solute carrier family 35 member A2 | |
| 7915 | ALDH5A1 | aldehyde dehydrogenase 5 family member A1 | |
| 7991 | TUSC3 | tumor suppressor candidate 3 | |
| 8802 | SUCLG1 | succinate-CoA ligase GDP/ADP-forming subunit alpha |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9Y6A1 | Protein O-mannosyl-transferase 1 |
