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congenital disorder of glycosylation Id
Summary
- Synonym
-
- congenital disorder of glycosylation 1d
- Definition
- A congenital disorder of glycosylation I that is characterized by severe neurologic involvement associated with dysmorphism and visual impairment and has_material_basis_in homozygous or compound heterozygous mutation in the ALG3 gene on chromosome 3q27.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type I
External Links
- Disease Ontology
- DOID:0080556
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O15305 | Phosphomannomutase 2 | |
| O75352 | Mannose-P-dolichol utilization defect 1 protein |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001864 | Clinodactyly of the 5th toe |
| HP:0000486 | Strabismus |
| HP:0003642 | Type I transferrin isoform profile |
| HP:0001272 | Cerebellar atrophy |
| HP:0011473 | Villous atrophy |
| HP:0001141 | Severely reduced visual acuity |
| HP:0002164 | Nail dysplasia |
| HP:0000286 | Epicanthus |
| HP:0001371 | Flexion contracture |
| HP:0100807 | Long fingers |
