OBO ID: DOID:0080465
Term Name: early infantile epileptic encephalopathy 30 Search Ontology:
Synonyms:
Definition: An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the SIK1 gene on chromosome 21q22. https://www.ncbi.nlm.nih.gov/pubmed/25839329
References:
Ontology: Human Disease   (DOID:0080465)
OTHER early infantile epileptic encephalopathy 30 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SIK1 Epileptic encephalopathy, early infantile, 30 616341
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None