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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:0002540 | Inability to walk |
| HP:0002553 | Highly arched eyebrow |
| HP:0002650 | Scoliosis |
| HP:0002804 | Arthrogryposis multiplex congenita |
| HP:0002828 | Multiple joint contractures |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration |
| HP:0003189 | Long nose |
| HP:0003282 | Low alkaline phosphatase |
| HP:0003593 | Infantile onset |
| HP:0004209 | Clinodactyly of the 5th finger |
