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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 |
|---|---|---|---|
| 79087 | ALG12 | ALG12 alpha-1,6-mannosyltransferase | |
| 79868 | ALG13 | ALG13 UDP-N-acetylglucosaminyltransferase subunit | |
| 84342 | COG8 | component of oligomeric golgi complex 8 | |
| 91869 | RFT1 | RFT1 homolog | |
| 147007 | TMEM199 | transmembrane protein 199 |
| 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
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000280 | Coarse facial features |
| HP:0002071 | Abnormality of extrapyramidal motor function |
| HP:0003642 | Type I transferrin isoform profile |
| HP:0000252 | Microcephaly |
| HP:0002240 | Hepatomegaly |
| HP:0007256 | Abnormal pyramidal sign |
| HP:0001252 | Hypotonia |
| HP:0001892 | Abnormal bleeding |
| HP:0000666 | Horizontal nystagmus |
| HP:0002719 | Recurrent infections |
