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congenital disorder of glycosylation Il
Summary
- Synonym
-
- congenital disorder of glycosylation 1l
- Definition
- A congenital disorder of glycosylation I that is characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly and has_material_basis_in homozygous mutation in the ALG9 gene on chromosome 11q23.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type I
External Links
- Disease Ontology
- DOID:0080564
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9H6U8 | Alpha-1,2-mannosyltransferase ALG9 | |
| Q9Y487 | V-type proton ATPase 116 kDa subunit a 2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003015 | Flared metaphysis |
| HP:0003026 | Short long bone |
| HP:0003186 | Inverted nipples |
| HP:0003196 | Short nose |
| HP:0003375 | Narrow greater sciatic notch |
| HP:0005133 | Right ventricular dilatation |
| HP:0005180 | Tricuspid regurgitation |
| HP:0005280 | Depressed nasal bridge |
| HP:0005343 | Hypoplasia of the bladder |
| HP:0005487 | Prominent metopic ridge |
