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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:0000252 | Microcephaly |
| HP:0002353 | EEG abnormality |
| HP:0008736 | Hypoplasia of penis |
| HP:0000293 | Full cheeks |
| HP:0012471 | Thick vermilion border |
| HP:0001347 | Hyperreflexia |
| HP:0000713 | Agitation |
| HP:0000639 | Nystagmus |
| HP:0009748 | Large earlobe |
| HP:0001762 | Talipes equinovarus |
