Developmental and Epileptic Encephalopathy 44 (DEE44)

Alias:

Dee44

Developmental and Epileptic Encephalopathy, 44

Epileptic Encephalopathy, Early Infantile, 44

Eiee44

Encephalopathy, Epileptic, Early Infantile, Type 44

Early Infantile Epileptic Encephalopathy 44

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Developmental and Epileptic Encephalopathy 44, also known as dee44, is related to developmental and epileptic encephalopathy and nephronophthisis 3. An important gene associated with Developmental and Epileptic Encephalopathy 44 is UBA5 (Ubiquitin Like Modifier Activating Enzyme 5). Affiliated tissues include eye and brain, and related phenotypes are global developmental delay and dystonia

Related ID：

MALACARDS：DVL069

OMIM：617132

MESH：D013036