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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:0002240 | Hepatomegaly |
| HP:0000648 | Optic atrophy |
| HP:0003642 | Type I transferrin isoform profile |
| HP:0001561 | Polyhydramnios |
| HP:0011169 | Generalized clonic seizure |
| HP:0001290 | Generalized hypotonia |
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0000294 | Low anterior hairline |
| HP:0002058 | Myopathic facies |
| HP:0200134 | Epileptic encephalopathy |
