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developmental and epileptic encephalopathy 31B
Summary
- Synonym
-
- DEE31B
- Definition
- A developmental and epileptic encephalopathy characterized by early-onset epilepsy, generalized muscular hypotonia, visual impairment, and severe neurodevelopmental delay that has_material_basis_in homozygous mutation in the DNM1 gene on chromosome 9q34.
- Super Class
- autosomal recessive disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0070376
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0007874 | Almond-shaped palpebral fissure |
| HP:0001250 | Seizure |
| HP:0012444 | Brain atrophy |
| HP:0001336 | Myoclonus |
| HP:0000637 | Long palpebral fissure |
| HP:0002521 | Hypsarrhythmia |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002019 | Constipation |
| HP:0005484 | Secondary microcephaly |
| HP:0000737 | Irritability |
