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congenital disorder of glycosylation Iu
Summary
- Synonym
-
- congenital disorder of glycosylation 1u
- Definition
- A congenital disorder of glycosylation I that is characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic fascies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels and has_material_basis_in homozygous or compound heterozygous mutation in the DPM2 gene on chromosome 9q34.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type I
External Links
- Disease Ontology
- DOID:0080571
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001508 | Failure to thrive |
| HP:0003241 | External genital hypoplasia |
| HP:0000601 | Hypotelorism |
| HP:0002205 | Recurrent respiratory infections |
| HP:0000253 | Progressive microcephaly |
| HP:0002650 | Scoliosis |
| HP:0001263 | Global developmental delay |
| HP:0010851 | EEG with burst suppression |
| HP:0002002 | Deep philtrum |
| HP:0000219 | Thin upper lip vermilion |
