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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:0011849 | Abnormal bone ossification |
| HP:0012448 | Delayed myelination |
| HP:0012704 | Widened subarachnoid space |
| HP:0100865 | Broad ischia |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000113 | Polycystic kidney dysplasia |
| HP:0000252 | Microcephaly |
| HP:0001508 | Failure to thrive |
| HP:0001541 | Ascites |
| HP:0001744 | Splenomegaly |
