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developmental and epileptic encephalopathy 48
Summary
- Synonym
-
- DEE48
- early infantile epileptic encephalopathy 48
- Definition
- A developmental and epileptic encephalopathy characterized by seizure onset before 1 year of age, global developmental delay, intellectual disability, absent speech, and minimal or absent motor development that has_material_basis_in homozygous or compound heterozygous mutation in the AP3B2 gene on chromosome 15q25.
- Super Class
- autosomal recessive disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0080448
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002360 | Sleep abnormality |
| HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) |
| HP:0002376 | Developmental regression |
| HP:0002421 | Poor head control |
| HP:0002506 | Diffuse cerebral atrophy |
| HP:0002521 | Hypsarrhythmia |
| HP:0005280 | Depressed nasal bridge |
| HP:0007204 | Diffuse white matter abnormalities |
| HP:0007359 | Focal-onset seizure |
| HP:0008947 | Infantile muscular hypotonia |
