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MIRAGE
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:0007385 | Aplasia cutis congenita of scalp |
| HP:0008724 | Hypoplasia of the ovary |
| HP:0008776 | Abnormal renal artery morphology |
| HP:0008905 | Rhizomelia |
| HP:0009004 | Hypoplasia of the musculature |
| HP:0009125 | Lipodystrophy |
| HP:0009487 | Ulnar deviation of the hand |
| HP:0010763 | Low insertion of columella |
| HP:0011103 | Abnormal left ventricular outflow tract morphology |
| HP:0011473 | Villous atrophy |
