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Summary
PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS B PROTEIN (PIGB)
PIGB DEFICIENCY
604122
OMIM = Online Medalian Inheritance of Men
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15q21.3
rare
mutations in the PIGB gene
symptoms
developmental delay
dysmorphism
intellectual disability/intellectual developmental disorder (ID/ IDD)
onset, infancy
onset, neonatal
peripheral neuropathy
seizures
skeletal changes, skeletal abnormalities
laboratory finding
2-Oxoglutaric acid mmol/mol Creaurine
Literature
de la Batie CD,et al.Autism spectrum disorders in propionic acidemia patientsJ Inherit Metab Dis002017