Developmental and Epileptic Encephalopathy 36 (DEE36)

Developmental and Epileptic Encephalopathy 36(来自ICD-11)

别称:

Congenital Disorder of Glycosylation Type I

Epileptic Encephalopathy, Early Infantile, 36

Congenital Disorder of Glycosylation, Type is

Congenital Disorder of Glycosylation, Type Ie

Congenital Disorder of Glycosylation Type 1e

Cdg1s

Cdg1e

Developmental and Epileptic Encephalopathy, 36

Congenital Disorder of Glycosylation Type is

Congenital Disorder of Glycosylation Ie

Congenital Disorder of Glycosylation 1e

Eiee36

Cdg is

Cdg-is

Dee36

Cdgis

Carbohydrate Deficient Glycoprotein Syndrome Type Ie

Glycosylation, Congenital Disorder of, Type Ie

Congenital Disorder of Glycosylation, Type Iu

Glycosylation, Congenital Disorder of, Type I

Congenital Disorder of Glycosylation Type 1s

Congenital Disorder of Glycosylation Type Ie

Congenital Disorder of Glycosylation Type 1a

Early Infantile Epileptic Encephalopathy 36

Congenital Disorder of Glycosylation 1s

Dol-P-Mannosyltransferase Deficiency

Cdg Syndrome Type is

Cdg Syndrome Type Ie

Alg13-Cdg

Dpm1-Cdg

Cdg Ie

Cdg-Ie

Cdgie

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Developmental and Epileptic Encephalopathy 36, also known as congenital disorder of glycosylation type i, is related to congenital disorder of glycosylation, type iif and congenital disorder of glycosylation, type ia, and has symptoms including ataxia, diarrhea and seizures. An important gene associated with Developmental and Epileptic Encephalopathy 36 is ALG13 (ALG13 UDP-N-Acetylglucosaminyltransferase Subunit), and among its related pathways/superpathways are Metabolism of proteins and Infectious disease. Affiliated tissues include liver and eye, and related phenotypes are infantile spasms and seizure

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