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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 |
|---|---|---|---|
| 38 | ACAT1 | acetyl-CoA acetyltransferase 1 | |
| 50 | ACO2 | aconitase 2 | |
| 51 | ACOX1 | acyl-CoA oxidase 1 | |
| 414 | ARSD | arylsulfatase D | |
| 1605 | DAG1 | dystroglycan 1 | |
| 1629 | DBT | dihydrolipoamide branched chain transacylase E2 | |
| 1727 | CYB5R3 | cytochrome b5 reductase 3 | |
| 1798 | DPAGT1 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | |
| 1892 | ECHS1 | enoyl-CoA hydratase, short chain 1 | |
| 2182 | ACSL4 | acyl-CoA synthetase long chain family member 4 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9Y6A1 | Protein O-mannosyl-transferase 1 |
