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congenital disorder of glycosylation Ij
Summary
- Synonym
-
- Congenital disorder of glycosylation 1j
- Definition
- A congenital disorder of glycosylation I that is characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia and has_material_basis_in homozygous or compound heterozygous mutation in the DPAGT1 gene, which encodes UDP-GlcNAc:dolichyl-phosphate N-acetylglucosamine phosphotransferase, on chromosome 11q23.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type I
External Links
- Disease Ontology
- DOID:0080562
- Mondo Disease Ontology
- ORDO
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9H3H5 | UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000252 | Microcephaly |
| HP:0000365 | Hearing impairment |
| HP:0000483 | Astigmatism |
| HP:0000486 | Strabismus |
| HP:0000510 | Rod-cone dystrophy |
| HP:0000519 | Developmental cataract |
| HP:0000577 | Exotropia |
| HP:0000639 | Nystagmus |
| HP:0000648 | Optic atrophy |
| HP:0000662 | Nyctalopia |
