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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 |
|---|---|---|---|
| 27315 | PGAP2 | post-GPI attachment to proteins 2 | |
| 29925 | GMPPB | GDP-mannose pyrophosphorylase B | |
| 29954 | POMT2 | protein O-mannosyltransferase 2 | |
| 54187 | NANS | N-acetylneuraminate synthase | |
| 55624 | POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | |
| 55650 | PIGV | phosphatidylinositol glycan anchor biosynthesis class V | |
| 79143 | MBOAT7 | membrane bound O-acyltransferase domain containing 7 | |
| 79147 | FKRP | fukutin related protein | |
| 79644 | SRD5A3 | steroid 5 alpha-reductase 3 | |
| 79868 | ALG13 | ALG13 UDP-N-acetylglucosaminyltransferase subunit |
Related Glycoprotein
