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Summary Literature (0)
DOID:0080464 - developmental and epileptic encephalopathy 53

Disease Ontology Definition:A developmental and 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.

Synonyms: DEE53, early infantile epileptic encephalopathy 53,

Xenbase Genes : synj1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a)