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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:0004689 | Short fourth metatarsal |
| HP:0006855 | Cerebellar vermis atrophy |
| HP:0007359 | Focal-onset seizure |
| HP:0009882 | Short distal phalanx of finger |
| HP:0010044 | Short 4th metacarpal |
| HP:0010851 | EEG with burst suppression |
| HP:0011221 | Vertical forehead creases |
| HP:0011344 | Severe global developmental delay |
| HP:0011927 | Short digit |
| HP:0011968 | Feeding difficulties |
