OBO ID: DOID:0112223 |
Term Name: | developmental and epileptic encephalopathy 89 | Search Ontology: | |
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Definition: | A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of seizures, profound global developmental delay with impaired intellectual development, absent speech, axial hypotonia, and spastic quadriparesis that has_material_basis_in homozygous or compound heterozygous mutation in the GAD1 gene on chromosome 2q31.1. https://pubmed.ncbi.nlm.nih.gov/32282878/ | ||
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Ontology: | Human Disease ( DOID:0112223 ) |
OTHER developmental and epileptic encephalopathy 89 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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