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congenital disorder of glycosylation Ik
Summary
- Synonym
-
- congenital disorder of glycosylation 1k
- Definition
- A congenital disorder of glycosylation I that is characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-1,4-mannosyltransferase on chromosome 16p13.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type I
External Links
- Disease Ontology
- DOID:0080563
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 594994 | alg1 | ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase | Xenopus tropicalis (tropical clawed frog) | |
| 100037043 | alg1.L | ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase L homeolog | Xenopus laevis (African clawed frog) |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9BT22 | Chitobiosyldiphosphodolichol beta-mannosyltransferase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002808 | Kyphosis |
| HP:0001252 | Hypotonia |
| HP:0001560 | Abnormality of the amniotic fluid |
| HP:0000239 | Large fontanelles |
| HP:0001290 | Generalized hypotonia |
| HP:0000135 | Hypogonadism |
| HP:0001744 | Splenomegaly |
| HP:0003642 | Type I transferrin isoform profile |
| HP:0000316 | Hypertelorism |
| HP:0001511 | Intrauterine growth retardation |
