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Summary
GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY
GPID
610293
OMIM = Online Medalian Inheritance of Men
83639
1q23.2
rare
autosomal recessive
symptoms
coarse facial features
hepatomegaly (large liver)
portal hypertension
seizures
seizures, absence
splenomegaly (large spleen)
thrombosis
laboratory finding
Literature