|OBO ID: DOID:0112213|
|Term Name:||developmental and epileptic encephalopathy 77||Search Ontology:|
|Definition:||A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in PIGQ on chromosome 16p13.3. https://pubmed.ncbi.nlm.nih.gov/31148362/|
|Ontology:||Human Disease (DOID:0112213)|
|is a type of:||
OTHER developmental and epileptic encephalopathy 77 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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