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Human Disease

developmental and epileptic encephalopathy 87

Term ID
DOID:0112221
Synonyms
  • DEE87
  • early infantile epileptic encephalopathy 87
Definition
A developmental and epileptic encephalopathy characterized by global developmental delay, severely impaired motor and cognitive development, hypotonia, and onset of frequent refractory seizures or infantile spasms between 6 and 15 months of age that has_material_basis_in heterozygous mutation in the CDK19 gene on chromosome 6q21. https://pubmed.ncbi.nlm.nih.gov/32330417/
References
Ontology
Human Disease   ( DOID:0112221 )
Relationships
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Genes Involved
Zebrafish Models