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MIRAGE
congenital disorder of glycosylation Ik
Summary
- Synonym
-
- congenital disorder of glycosylation 1k
- Definition
- A congenital disorder of glycosylation I that is characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-1,4-mannosyltransferase on chromosome 16p13.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type I
External Links
- Disease Ontology
- DOID:0080563
- Mondo Disease Ontology
- ORDO
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003073 | Hypoalbuminemia |
| HP:0001263 | Global developmental delay |
| HP:0000478 | Abnormality of the eye |
| HP:0002028 | Chronic diarrhea |
| HP:0011344 | Severe global developmental delay |
| HP:0001376 | Limitation of joint mobility |
| HP:0000639 | Nystagmus |
| HP:0002243 | Protein-losing enteropathy |
| HP:0000100 | Nephrotic syndrome |
| HP:0001871 | Abnormality of blood and blood-forming tissues |
