Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
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:0002705 | High, narrow palate |
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0003186 | Inverted nipples |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0003241 | External genital hypoplasia |
| HP:0003560 | Muscular dystrophy |
| HP:0004855 | Reduced protein S activity |
| HP:0005280 | Depressed nasal bridge |
| HP:0005469 | Flat occiput |
| HP:0005484 | Secondary microcephaly |
