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Glycan Structure Repository
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Glycoconjugate Repository
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Glycomics MS raw data Repository
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Glycomics MS Repository for glycan annotations from GlycoWorkbench
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Repository for lectin-assisted multimodality data
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MIRAGE
MEHMO syndrome
Summary
- Synonym
-
- MRXS20
- MRXS25
- X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome
- mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity
- syndromic X-linked mental retardation 20
- syndromic X-linked mental retardation 25
- Definition
- A syndromic X-linked intellectual disability characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism and obesity with variable occurrence of growth delay and diabetes that has_material_basis_in hemizygous mutation in the EIF2S3 gene on chromosome Xp22.
- Super Class
- X-linked recessive disease syndromic X-linked intellectual disability
External Links
- Disease Ontology
- DOID:0060801
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P41091 | Eukaryotic translation initiation factor 2 subunit 3 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000545 | Myopia |
| HP:0003487 | Babinski sign |
| HP:0001257 | Spasticity |
| HP:0000455 | Broad nasal tip |
| HP:0002465 | Poor speech |
| HP:0001249 | Intellectual disability |
| HP:0003828 | Variable expressivity |
| HP:0000718 | Aggressive behavior |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0000276 | Long face |
