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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:0001156 | Brachydactyly |
| HP:0001250 | Seizure |
| HP:0001251 | Ataxia |
| HP:0001263 | Global developmental delay |
| HP:0001272 | Cerebellar atrophy |
| HP:0001288 | Gait disturbance |
| HP:0001290 | Generalized hypotonia |
| HP:0001344 | Absent speech |
| HP:0001382 | Joint hypermobility |
| HP:0001537 | Umbilical hernia |
