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developmental and epileptic encephalopathy 55
Summary
- Synonym
-
- DEE55
- GPIBD14
- early infantile epileptic encephalopathy 55
- glycosylphosphatidylinositol biosynthesis defect 14
- Definition
- A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of refractory seizures, profoundly impaired intellectual development, absent speech, spastic quadriplegia, and dyskinetic movements that has_material_basis_in homozygous or compound heterozygous mutation in the PIGP gene on chromosome 21q22.
- Super Class
- autosomal recessive disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0080283
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001344 | Absent speech |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002540 | Inability to walk |
| HP:0001382 | Joint hypermobility |
| HP:0010841 | Multifocal epileptiform discharges |
| HP:0002187 | Intellectual disability, profound |
| HP:0100704 | Cerebral visual impairment |
| HP:0001347 | Hyperreflexia |
| HP:0002509 | Limb hypertonia |
| HP:0000817 | Reduced eye contact |
