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ENCongenital Disorder of Glycosylation, Type in (CDG1N)
Alias:
Congenital Disorder of Glycosylation
Carbohydrate Deficient Glycoprotein Syndrome
Cdg1n
Carbohydrate-Deficient Glycoprotein Syndrome
Congenital Disorder of Glycosylation Type in
Congenital Disorder of Glycosylation 1n
Congenital Disorders of Glycosylation
Cdg in
Cdg-in
Cdgin
Cdg
Carbohydrate Deficient Glycoprotein Syndrome Type in
Glycosylation, Congenital Disorder of, Type in
Congenital Disorder of Glycosylation Type 1n
Rft1-Congenital Disorder of Glycosylation
Congenital Disorder of Glycosylation in
Man5glcnac2-Pp-Dol Flippase Deficiency
Glycosylation, Congenital Disorder of
Cdg Syndrome Type in
Cdg Syndrome
Rft1-Cdg
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Congenital Disorder of Glycosylation, Type in, also known as congenital disorder of glycosylation, is related to congenital disorder of glycosylation, type im and congenital disorder of glycosylation, type iim, and has symptoms including ataxia, muscle spasticity and myoclonus. An important gene associated with Congenital Disorder of Glycosylation, Type in is RFT1 (RFT1 Homolog), and among its related pathways/superpathways are Infectious disease and Metabolism of proteins. The drugs Sorbitol and Acetazolamide have been mentioned in the context of this disorder. Affiliated tissues include liver and heart, and related phenotypes are seizure and hypotonia
Related ID：
Basic Information
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MALACARDS
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MGI
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IF
