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Repository for lectin-assisted multimodality data
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MIRAGE
congenital disorder of glycosylation Ii
Summary
- Synonym
-
- congenital disorder of glycosylation 1i
- Definition
- A congenital disorder of glycosylation I that is characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors and has_material_basis_in compound heterozygous mutation in the ALG2 gene on chromosome 9q22.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type I
External Links
- Disease Ontology
- DOID:0080561
- Mondo Disease Ontology
- ORDO
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002521 | Hypsarrhythmia |
| HP:0000707 | Abnormality of the nervous system |
| HP:0012751 | Abnormal basal ganglia MRI signal intensity |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0011344 | Severe global developmental delay |
| HP:0001928 | Abnormality of coagulation |
| HP:0000286 | Epicanthus |
| HP:0006808 | Cerebral hypomyelination |
| HP:0001250 | Seizure |
| HP:0012469 | Infantile spasms |
