Congenital disorder of glycosylation

Summary: A genetically heterogeneous group of heritable disorders resulting from defects in protein N-glycosylation. ...1,2

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Symptoms List: Congenital disorder of glycosylation

Symptoms and clinical features may include:3 Clinical Features of Congenital disorder of glycosylation:

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Causes List for Congenital disorder of glycosylation

Some possible causes of Congenital disorder of glycosylation or similar disorders may include:4

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Types of Congenital disorder of glycosylation

Some types of this condition may include:5 Types of congenital disorder of glycosylation:

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Genetics of Congenital disorder of glycosylation

Modes of inheritance: Autosomal recessive inheritance (HPO, OMIM, Orphanet) X-linked recessive inheritance (HPO, OMIM, Orphanet) ...Source: GTR (NCBI/NIH)6 ...

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Names and Terminology

Synonyms: Carbohydrate-deficient glycoprotein syndrome ...Source: GTR (NCBI/NIH)7 ...

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References

  1. [from MeSH]
  2. Source: GTR (NCBI/NIH): ncbi.nlm.nih.gov/ gtr/ conditions/ C0282577/ 
  3. Source: Human Phenotype Ontology
  4. Source: Algorithmically Generated List
  5. Source: Disease Ontology
  6. Source: GTR (NCBI/NIH): ncbi.nlm.nih.gov/ gtr/ conditions/ C0282577/ 
  7. ibid.

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