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DOID:0080437 - developmental and epileptic encephalopathy 31A
Disease Ontology Definition:A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures and global developmental delay from early infancy that has_material_basis_in heterozygous mutation in the DNM1 gene on chromosome 9q34.
Synonyms: DEE31, DEE31A, developmental and epileptic encephalopathy 31, early infantile epileptic encephalopathy 31,
Xenbase Genes
:
dnm1
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a)