Congenital Disorder of Glycosylation, Type Iu (CDG1U)

Alias:

Congenital Muscular Dystrophy with Intellectual Disability and Severe Epilepsy

Cdg1u

Congenital Disorder of Glycosylation Type Iu

Cdg-Iu

Cmd with Intellectual Disability and Severe Epilepsy

Carbohydrate Deficient Glycoprotein Syndrome Type Iu

Congenital Disorder of Glycosylation Type 1u

Congenital Disorder of Glycosylation 1u

Cdg Syndrome Type Iu

Dpm2-Cdg

Cdg Iu

Cdgiu

Glycosylation, Congenital Disorder of, Type Iu

Congenital Disorder of Glycosylation Iu

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Congenital Disorder of Glycosylation, Type Iu, also known as congenital muscular dystrophy with intellectual disability and severe epilepsy, is related to developmental and epileptic encephalopathy 36 and muscular dystrophy-dystroglycanopathy. An important gene associated with Congenital Disorder of Glycosylation, Type Iu is DPM2 (Dolichyl-Phosphate Mannosyltransferase Subunit 2, Regulatory). Affiliated tissues include liver and brain, and related phenotypes are failure to thrive and scoliosis

Related ID：

MALACARDS：CNG386

OMIM：615042

MESH：D018981