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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:0007068 | Inferior cerebellar vermis hypoplasia |
| HP:0000232 | Everted lower lip vermilion |
| HP:0012110 | Hypoplasia of the pons |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001510 | Growth delay |
| HP:0008936 | Axial hypotonia |
| HP:0100876 | Infra-orbital crease |
| HP:0001276 | Hypertonia |
| HP:0000253 | Progressive microcephaly |
| HP:0005280 | Depressed nasal bridge |
