" /> Developmental and epileptic encephalopathy 9 - CISMeF





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).;

Prefixed ID : #300088;

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02/05/2025


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