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MIRAGE
congenital disorder of glycosylation Ix
Summary
- Synonym
-
- congenital disorder of glycosylation 1x
- Definition
- A congenital disorder of glycosylation I that is characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties and has_material_basis_in homozygous mutation in the STT3B gene on chromosome 3p23.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type I
External Links
- Disease Ontology
- DOID:0080573
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8TCJ2 | Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3B |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001250 | Seizure |
| HP:0011968 | Feeding difficulties |
| HP:0000078 | Abnormality of the genital system |
| HP:0001508 | Failure to thrive |
| HP:0000046 | Small scrotum |
| HP:0001272 | Cerebellar atrophy |
| HP:0001873 | Thrombocytopenia |
| HP:0000648 | Optic atrophy |
| HP:0000028 | Cryptorchidism |
| HP:0001290 | Generalized hypotonia |
