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congenital disorder of glycosylation Iw
Summary
- Synonym
-
- congenital disorder of glycosylation 1w
- Definition
- A congenital disorder of glycosylation I that is characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures and has_material_basis_in homozygous mutation in the STT3A gene on chromosome 11q24.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type I
External Links
- Disease Ontology
- DOID:0080572
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P46977 | Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P39007 | Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001272 | Cerebellar atrophy |
| HP:0000252 | Microcephaly |
| HP:0011968 | Feeding difficulties |
| HP:0000046 | Small scrotum |
| HP:0001508 | Failure to thrive |
| HP:0001250 | Seizure |
| HP:0000028 | Cryptorchidism |
| HP:0001263 | Global developmental delay |
| HP:0007772 | Impaired smooth pursuit |
| HP:0000054 | Micropenis |
