OBO ID: DOID:0112221
Term Name: developmental and epileptic encephalopathy 87 Search Ontology:
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
is a type of:
OTHER developmental and epileptic encephalopathy 87 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CDK19 Developmental and epileptic encephalopathy 87 618916
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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