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General Information
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| Term |
developmental and epileptic encephalopathy 55 |
ID (Ontology) |
DOID:0080283 (Human Disease) |
| 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. |
| Also Known As |
"DEE55" ; "early infantile epileptic encephalopathy 55" ; "glycosylphosphatidylinositol biosynthesis defect 14" (for all, see Synonyms field below) |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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developmental and epileptic encephalopathy 55 | 1 | for disease ribbon | developmental and epileptic encephalopathy 55 | 1 | model of | developmental and epileptic encephalopathy 55 | 1 |
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Relationships