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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
- OMIM
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0007183 | Focal T2 hyperintense basal ganglia lesion |
| HP:0010864 | Intellectual disability, severe |
| HP:0011097 | Epileptic spasm |
| HP:0011463 | Childhood onset |
| HP:0012368 | Flat face |
| HP:0012520 | Dilation of Virchow-Robin spaces |
