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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
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9NP73 | UDP-N-acetylglucosamine transferase subunit ALG13 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002283 | Global brain atrophy |
| HP:0000343 | Long philtrum |
| HP:0004325 | Decreased body weight |
| HP:0000750 | Delayed speech and language development |
| HP:0012469 | Infantile spasms |
| HP:0001181 | Adducted thumb |
| HP:0000639 | Nystagmus |
| HP:0002421 | Poor head control |
| HP:0001371 | Flexion contracture |
| HP:0010864 | Intellectual disability, severe |
