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Congenital disorder of glycosylation, GALNT2-related — Small Calf Syndrome

Reynolds et al. (2021): “The top-associated SNP in these analyses presented a highly correlated … c.1561-1G>A splice acceptor mutation in GALNT2 as potentially responsible for these effects … .” The authors “had provisionally mapped the variant as a candidate stature mutation (unpublished), and subsequently as a variant for which homozygotes were depleted … (Charlier et al., 2016).”

OMIA ID: 2375Inheritance: 5Characterised: YesYear: 2021