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developmental and epileptic encephalopathy 36
Summary
- Synonym
-
- congenital disorder of glycosylation, type Is
- early infantile epileptic encephalopathy 36
- Definition
- A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of infantile onset of seizures, delayed psychomotor development and in some patients dysmorphic features that has_material_basis_in heterozygous mutation in the ALG13 gene on chromosome Xq23.
- Super Class
- X-linked dominant disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0080470
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 549862 | alg13l | ALG13, UDP-N-acetylglucosaminyltransferase subunit-like | Xenopus tropicalis (tropical clawed frog) | |
| 108698403 | alg13.L | ALG13 UDP-N-acetylglucosaminyltransferase subunit L homeolog | Xenopus laevis (African clawed frog) |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9NP73 | UDP-N-acetylglucosamine transferase subunit ALG13 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000817 | Reduced eye contact |
| HP:0012443 | Abnormal brain morphology |
| HP:0000463 | Anteverted nares |
| HP:0002312 | Clumsiness |
| HP:0000331 | Short chin |
| HP:0002521 | Hypsarrhythmia |
| HP:0000717 | Autism |
| HP:0100543 | Cognitive impairment |
| HP:0001290 | Generalized hypotonia |
| HP:0000316 | Hypertelorism |
