developmental and epileptic encephalopathy 2

Summary

DOID:0080467 - developmental and epileptic encephalopathy 2

Disease Ontology Definition:A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of seizure onset in the first months of life, intellectual disability, and poor motor control that has_material_basis_in mutation in the CDKL5 gene on chromosome Xp22.

Synonyms: DEE2, early infantile epileptic encephalopathy 2, EIEE2, X-linked infantile spasm syndrome 2

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: cdkl5

MIM:

MIM:300672 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2; DEE2

MIM:300672 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2; DEE2

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): developmental and epileptic encephalopathy (is_a), X-linked dominant disease (is_a)