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congenital disorder of glycosylation Ic
Summary
- Synonym
-
- congenital disorder of glycosylation 1c
- Definition
- A congenital disorder of glycosylation I that is characterized by psychomotor retardation with delayed walking and speech, hypotonia, seizures, and sometimes protein-losing enteropathy and has_material_basis_in homozygous or compound heterozygous mutation in the ALG6 gene on chromosome 1p31.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type I
External Links
- Disease Ontology
- DOID:0080555
- Mondo Disease Ontology
- ORDO
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9Y672 | Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002652 | Skeletal dysplasia |
| HP:0006118 | Shortening of all distal phalanges of the fingers |
| HP:0001251 | Ataxia |
| HP:0000707 | Abnormality of the nervous system |
| HP:0003256 | Abnormality of the coagulation cascade |
| HP:0004855 | Reduced protein S activity |
| HP:0000952 | Jaundice |
| HP:0001156 | Brachydactyly |
| HP:0012379 | Abnormal circulating enzyme concentration or activity |
| HP:0002243 | Protein-losing enteropathy |
