Developmental and Epileptic Encephalopathy 50 (DEE50)

Alias:

Dee50

Developmental and Epileptic Encephalopathy, 50

Epileptic Encephalopathy, Early Infantile, 50

Eiee50

Congenital Disorder of Glycosylation, Type Iz, Formerly

Carbohydrate Deficient Glycoprotein Syndrome Type Iz

Encephalopathy, Epileptic, Early Infantile,, Type 50

Congenital Disorder of Glycosylation Type 1z

Early Infantile Epileptic Encephalopathy 50

Congenital Disorder of Glycosylation 1z

Cdg Syndrome Type Iz

Cdg1z, Formerly

Cdg-Iz

Cdg1z

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Developmental and Epileptic Encephalopathy 50, also known as dee50, is related to cad-cdg and early infantile epileptic encephalopathy. An important gene associated with Developmental and Epileptic Encephalopathy 50 is CAD (Carbamoyl-Phosphate Synthetase 2, Aspartate Transcarbamylase, And Dihydroorotase), and among its related pathways/superpathways are Metabolism of nucleotides and Pyrimidine metabolism. Affiliated tissues include bone marrow and brain, and related phenotypes are seizure and failure to thrive

Related ID：

MALACARDS：DVL060

OMIM：616457

MESH：D013036