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congenital disorder of glycosylation Im
Summary
- Synonym
-
- DOLK-congenital disorder of glycosylation
- congenital disorder of glycosylation 1m
- dolichol kinase deficiency
- Definition
- A congenital disorder of glycosylation I that is characterized by muscular hypotonia and ichthyosis and has_material_basis_in homozygous mutation in the DOLK gene, which encodes the enzyme responsible for the final step of the de novo biosynthesis of dolichol phosphate, on chromosome 9q34.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type I
External Links
- Disease Ontology
- DOID:0080565
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001249 | Intellectual disability |
| HP:0011675 | Arrhythmia |
| HP:0001508 | Failure to thrive |
| HP:0004322 | Short stature |
| HP:0000253 | Progressive microcephaly |
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0008064 | Ichthyosis |
| HP:0000817 | Reduced eye contact |
| HP:0011342 | Mild global developmental delay |
| HP:0001344 | Absent speech |
