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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:0001929 | Reduced factor XI activity |
| HP:0001976 | Reduced antithrombin III activity |
| HP:0001999 | Abnormal facial shape |
| HP:0002188 | Delayed CNS myelination |
| HP:0002283 | Global brain atrophy |
| HP:0002465 | Poor speech |
| HP:0002750 | Delayed skeletal maturation |
| HP:0002808 | Kyphosis |
| HP:0002827 | Hip dislocation |
| HP:0003073 | Hypoalbuminemia |
