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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:0000238 | Hydrocephalus |
| HP:0002188 | Delayed CNS myelination |
| HP:0000308 | Microretrognathia |
| HP:0003645 | Prolonged partial thromboplastin time |
| HP:0001250 | Seizure |
| HP:0011968 | Feeding difficulties |
| HP:0001417 | X-linked inheritance |
| HP:0000648 | Optic atrophy |
| HP:0002650 | Scoliosis |
| HP:0200055 | Small hand |
