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Repository for lectin-assisted multimodality data
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MIRAGE
congenital disorder of glycosylation Ie
Summary
- Synonym
-
- congenital disorder of glycosylation 1e
- Definition
- A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the DPM1 gene on chromosome 20q13.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type I
External Links
- Disease Ontology
- DOID:0080557
- Mondo Disease Ontology
- ORDO
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000243 | Trigonocephaly |
| HP:0000293 | Full cheeks |
| HP:0000316 | Hypertelorism |
| HP:0000319 | Smooth philtrum |
| HP:0000347 | Micrognathia |
| HP:0000486 | Strabismus |
| HP:0000488 | Retinopathy |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000565 | Esotropia |
| HP:0000639 | Nystagmus |
