Congenital Disorder of Glycosylation, Type Iin (CDG2N)

Alias:

Slc39a8-Cdg

Cdg2n

Congenital Disorder of Glycosylation Type Iin

Cdg Iin

Cdg-Iin

Carbohydrate Deficient Glycoprotein Syndrome Type Iin

Congenital Disorder of Glycosylation Type 2n

Cdg Syndrome Type Iin

Slc39a8 Deficiency

Cdgiin

Glycosylation, Congenital Disorder of, Type Iin

Congenital Disorder of Glycosylation 2n

Cdgiidn

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Congenital Disorder of Glycosylation, Type Iin, also known as slc39a8-cdg, is related to developmental and epileptic encephalopathy 36 and congenital disorder of glycosylation, type in. An important gene associated with Congenital Disorder of Glycosylation, Type Iin is SLC39A8 (Solute Carrier Family 39 Member 8), and among its related pathways/superpathways are Metabolism of proteins and Infectious disease. Affiliated tissues include brain and liver, and related phenotypes are severe muscular hypotonia and profound global developmental delay

Related ID：

MALACARDS：CNG498

OMIM：616721

MESH：D018981