Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
developmental and epileptic encephalopathy 93
Summary
- Synonym
-
- DEE93
- IECEE3
- infantile or early childhood epileptic encephalopathy 3
- Definition
- A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and impaired intellectual development that has_material_basis_in heterozygous mutation in the ATP6V1A gene on chromosome 3q13.31.
- Super Class
- autosomal dominant disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0112275
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002376 | Developmental regression |
| HP:0011443 | Abnormality of coordination |
| HP:0012547 | Abnormal involuntary eye movements |
| HP:0004305 | Involuntary movements |
| HP:0100710 | Impulsivity |
| HP:0007018 | Attention deficit hyperactivity disorder |
| HP:0002509 | Limb hypertonia |
| HP:0012444 | Brain atrophy |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0012469 | Infantile spasms |
