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ZIRC
OBO ID: DOID:0080464
Term Name: early infantile epileptic encephalopathy 53 Search Ontology:
Synonyms:
Definition: An early infantile epileptic encephalopathy characterized by infantile onset of intractable seizures, hypotonia, poor or absent global development, severe intellectual disability and spastic quadriplegia that has_material_basis_in homozygous or compound heterozygous mutation in the SYNJ1 gene on chromosome 21q22.https://www.ncbi.nlm.nih.gov/pubmed/27435091
References:
Ontology: Human Disease   (DOID:0080464)
OTHER early infantile epileptic encephalopathy 53 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SYNJ1 Epileptic encephalopathy, early infantile, 53 617389
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None