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congenital disorder of glycosylation type 2C (CDG2C);
Also see congenital disorder of glycosylation
Pathology:
- lack of fucosylated glycoconjugates, including selectin ligands
Genetics:
- associated with mutation in gene for SLC35C1
Clinical manifestations:
- clinical features of CDG2C include:
a) mental retardation
b) short stature
c) facial stigmata
d) recurrent bacterial infections
Laboratory:
- complete blood count (CBC):
- persistently elevated WBC
Related
solute carrier family 35 member C1 (SLC35C1, GDP-fucose transporter 1, FUCT1)
General
congenital disorder of glycosylation
leukocyte adhesion deficiency-2
Database Correlations
OMIM 266265
References
OMIM :accession 266265