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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:0000648 | Optic atrophy |
| HP:0000504 | Abnormality of vision |
| HP:0000750 | Delayed speech and language development |
| HP:0000348 | High forehead |
| HP:0000708 | Atypical behavior |
| HP:0001250 | Seizure |
| HP:0000546 | Retinal degeneration |
| HP:0000252 | Microcephaly |
| HP:0000639 | Nystagmus |
| HP:0000717 | Autism |
| Gene ID | Gene Symbol | Description |
|---|---|---|
| 1759 | DNM1 | dynamin 1 |
| 523 | ATP6V1A | ATPase H+ transporting V1 subunit A |
| 781 | CACNA2D1 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 |
| 79947 | DHDDS | dehydrodolichyl diphosphate synthase subunit |
| 8867 | SYNJ1 | synaptojanin 1 |
| 4190 | MDH1 | malate dehydrogenase 1 |
