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 88
Summary
- Synonym
-
- DEE88
- early infantile epileptic encephalopathy 88
- Definition
- A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the MDH1 gene on chromosome 2p15.
- Super Class
- autosomal recessive disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0112222
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0010844 | EEG with multifocal slow activity |
| HP:0011443 | Abnormality of coordination |
| HP:0011968 | Feeding difficulties |
| HP:0012444 | Brain atrophy |
| HP:0012447 | Abnormal myelination |
| HP:0012547 | Abnormal involuntary eye movements |
| HP:0100660 | Dyskinesia |
| HP:0100710 | Impulsivity |
| HP:0001338 | Partial agenesis of the corpus callosum |
| HP:0200134 | Epileptic encephalopathy |
