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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: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 |
