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GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY (PIGH-CDG)

GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY (PIGH-CDG)
PIGM-CDG, GPID
610293
OMIM = Online Mendelian Inheritance of Men
83639
GPI mannosyltransferase 1
1q23.2
E88.8
rare
autosomal recessive
mutation in the PIGM gene
Laboratory findings    Sialotransferrins (isoelectrofocussing) (plasma)
Symptoms    coarse facial features
    developmental delay
    epilepsy
    hepatomegaly (large liver)
    onset, childhood
    onset, infancy
    onset, neonatal
    portal hypertension
    seizures
    seizures, absence
    splenomegaly (large spleen)
    thrombosis