Congenital Disorder of Deglycosylation 1 (CDDG1)

Congenital Disorder of Deglycosylation 1(来自ICD-11)

别称:

Congenital Disorder of Deglycosylation

Cddg1

Cddg

Congenital Disorder of Glycosylation, Type Iv, Formerly

Congenital Disorder of Glycosylation Type Iv

Congenital Disorder of Glycosylation 1v

Deglycosylation, Congenital Disorder of

Cdg1v, Formerly

Cdg1v

Cdgiv

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Congenital Disorder of Deglycosylation 1, also known as congenital disorder of deglycosylation, is related to congenital disorder of deglycosylation 2 and ngly1-congenital disorder of deglycosylation, and has symptoms including involuntary movements An important gene associated with Congenital Disorder of Deglycosylation 1 is NGLY1 (N-Glycanase 1). Affiliated tissues include liver and eye, and related phenotypes are intellectual disability and hypotonia

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