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GENATLAS PHENOTYPE
last update : 25-08-2014
Symbol CDG2R
Location 6q14.1
Name congenital disorder of glycosylation, type 2R
Corresponding gene PGM3
Other symbol(s) IMD23, IVMS
Main clinical features
  • recurrent infections, congenital leukopenia including neutropenia, B and T cell lymphopenia, and progression to bone marrow failure, low numbers of T cells, an increased CD4/CD8 ratio, progressive loss of B cells with age, and persistently normal NK cells
  • skeletal anomalies resembling Desbuquois dysplasia: short stature, brachydactyly, dysmorphic facial features, and intellectual disability
  • Genetic determination autosomal recessive
    Function/system disorder mental retardation
    defense and immunity
    osteo-articular
    Type disease
    Remark(s)