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developmental and epileptic encephalopathy 95
Summary
- Synonym
-
- DEE95
- early infantile epileptic encephalopathy 95
- Definition
- A developmental and epileptic encephalopathy characterized by severely impaired global development, hypotonia, weakness, ataxia, coarse facial features, and intractable seizures that has_material_basis_in homozygous or compound heterozygous mutation in the PIGS gene on chromosome 17q11.
- Super Class
- autosomal recessive disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0070382
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001640 | Cardiomegaly |
| HP:0001989 | Fetal akinesia sequence |
| HP:0002002 | Deep philtrum |
| HP:0002019 | Constipation |
| HP:0002059 | Cerebral atrophy |
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0002120 | Cerebral cortical atrophy |
| HP:0002133 | Status epilepticus |
| HP:0002188 | Delayed CNS myelination |
| HP:0002240 | Hepatomegaly |
