" /> Developmental and epileptic encephalopathy 2 - CISMeF





Preferred Label : Developmental and epileptic encephalopathy 2;

Symbol : DEE2;

CISMeF acronym : EIEE2; ISSX2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Infantile spasm syndrome, X-linked 2; ISSX2; Epileptic encephalopathy, early infantile, 2; EIEE2;

Inheritance : X-linked dominant;

Molecular basis : Caused by mutation in the cyclin-dependent kinase-like 5 gene (CDKL5, 300203.0001);

Prefixed ID : #300672;

Details


You can consult :


Nous contacter.
02/05/2025


[Home] [Top]

© Rouen University Hospital. Any partial or total use of this material must mention the source.