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Repository for lectin-assisted multimodality data
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MIRAGE
congenital disorder of deglycosylation 2
Summary
- Definition
- A carbohydrate metabolic disorder characterized by variable associated features such as dysmorphic facies, impaired intellectual development, and brain anomalies, including polymicrogyria, interhemispheric cysts, hypothalamic hamartoma, callosal anomalies, and hypoplasia of brainstem and cerebellar vermis that has_material_basis_in homozygous or compound heterozygous mutation in the MAN2C1 gene on chromosome 15q24.
- Super Class
- autosomal recessive disease congenital disorder of deglycosylation
External Links
- Disease Ontology
- DOID:0060990
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9NTJ4 | Alpha-mannosidase 2C1 |
