Developmental and Epileptic Encephalopathy 97

Preferred Label : Developmental and Epileptic Encephalopathy 97;

NCIt synonyms : DEE97;

NCIt definition : An autosomal dominant subtype of developmental and epileptic encephalopathy caused by mutation(s) in the CELF2 gene, encoding CUGBP Elav-like family member 2.;

NCI Metathesaurus CUI : CL1783734;

Details

Origin ID

C206520;

Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Brain [NCIt concept]
disease_mapped_to_gene
- CELF2 Gene [NCIt concept]

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