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developmental and epileptic encephalopathy 38
Summary
- Synonym
-
- DEE38
- early infantile epileptic encephalopathy 38
- Definition
- A developmental and epileptic encephalopathy characterized by onset of seizures between 4 and 7 months of age, severely impaired global development, hypotonia with poor head control, and visual inattention that has_material_basis_in homozygous or compound heterozygous mutation in the ARV1 gene on chromosome 1q42.
- Super Class
- autosomal recessive disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0080417
- Mondo Disease Ontology
- OMIM
- 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:0000668 | Hypodontia |
| HP:0001249 | Intellectual disability |
