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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 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002059 | Cerebral atrophy |
| HP:0002061 | Lower limb spasticity |
| HP:0002089 | Pulmonary hypoplasia |
| HP:0002099 | Asthma |
| HP:0002101 | Abnormal lung lobation |
| HP:0002162 | Low posterior hairline |
| HP:0002240 | Hepatomegaly |
| HP:0002265 | Large fleshy ears |
| HP:0002557 | Hypoplastic nipples |
| HP:0002652 | Skeletal dysplasia |
