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ZIRC
OBO ID: DOID:0080418
Term Name: early infantile epileptic encephalopathy 54 Search Ontology:
Synonyms:
Definition: An early infantile epileptic encephalopathy chraracterized by delayed psychomotor development, early-onset refractory seizures, and severe intellectual disability that has_material_basis_in heterozygous mutation in the HNRNPU gene on chromosome 1q44.https://www.ncbi.nlm.nih.gov/pubmed/27652284
References:
Ontology: Human Disease   (DOID:0080418)
OTHER early infantile epileptic encephalopathy 54 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
HNRNPU Epileptic encephalopathy, early infantile, 54 617391
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None