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congenital disorder of glycosylation Ig
Summary
- Synonym
-
- ALG12-congenital disorder of glycosylation
- congenital disorder of glycosylation 1g
- Definition
- A congenital disorder of glycosylation I that is characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase on chromosome 22q13.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type I
External Links
- Disease Ontology
- DOID:0080559
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002650 | Scoliosis |
| HP:0002902 | Hyponatremia |
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0003026 | Short long bone |
| HP:0003049 | Ulnar deviation of the wrist |
| HP:0003073 | Hypoalbuminemia |
| HP:0003146 | Hypocholesterolemia |
| HP:0003186 | Inverted nipples |
| HP:0003256 | Abnormality of the coagulation cascade |
| HP:0003645 | Prolonged partial thromboplastin time |
