|OBO ID: DOID:0080441|
|Term Name:||developmental and epileptic encephalopathy 49||Search Ontology:|
|Definition:||A developmental and epileptic encephalopathy characterized by neonatal onset of seizures, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DENND5A gene on chromosome 11p15. https://www.ncbi.nlm.nih.gov/pubmed/27866705|
|Ontology:||Human Disease (DOID:0080441)|
|is a type of:||
OTHER developmental and epileptic encephalopathy 49 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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