Developmental and epileptic encephalopathy 9 - CISMeF
Developmental and epileptic encephalopathy 9OMIM Phenotype
Preferred Label : Developmental and epileptic encephalopathy 9;
Symbol : DEE9;
CISMeF acronym : EIEE9;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Juberg-hellman syndrome; Epilepsy, female-restricted, with mental retardation; EFMR; Epileptic encephalopathy, early infantile, 9; EIEE9;
Inheritance : X-linked;
Molecular basis : Caused by mutation in the protocadherin 19 gene (PCDH19, 300460.0001).;