The syndrome caused by mutations in the PIGV gene, PIGV-CDG, previously known as Hyperphosphatasia with impaired intellectual development syndrome-1 (HPMRS1), is an autosomal recessive disorder characterized by intellectual disability, various neurologic abnormalities such as seizures and hypotonia, and hyperphosphatasia. Other features include facial dysmorphism and variable degrees of brachytelephalangy.
PIGV