C18orf32 loss-of-function is associated with a neurodevelopmental disorder with hypotonia and contractures.
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DOI: 10.1007/s00439-022-02433-0
Abstract: Glycosylphosphatidylinositol (GPI) functions to anchor certain proteins to the cell surface. Although defects in GPI biosynthesis can result in a wide range of phenotypes, most affected patients present with neurological abnormalities and their diseases are grouped… read more here.
Keywords: hypotonia contractures; disorder hypotonia; c18orf32; gpi ... See more keywords