OBO ID: DOID:0080428 |
Term Name: | developmental and epileptic encephalopathy 45 | Search Ontology: | |
---|---|---|---|
Synonyms: |
|
||
Definition: | A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, severely impaired intellectual development, hypotonia, and other persistent neurologic deficits that has_material_basis_in heterozygous mutation in the GABRB1 gene on chromosome 4p13. (2) | ||
References: | |||
Ontology: | Human Disease ( DOID:0080428 ) |
OTHER developmental and epileptic encephalopathy 45 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
Your Input Welcome
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if
additional information is required.
Oops. Something went wrong. Please try again later.