Congenital Disorder of Glycosylation, Type Im (DOLK)

Congenital disorder of glycosylation, type Im (DOLK-CDG) is an autosomal recessive disorder caused by pathogenic variants in the gene DOLK. This rare inborn error of metabolism has an onset in infancy or early childhood. This disorder is characterized by a weakened and enlarged heart (dilated cardiomyopathy) as well as severe muscular hypotonia, developmental delay, recurrent seizures, and dry, scaly skin (icthyosis). Some individuals also have distinctive facial features, microcephaly, and visual impairment. Life expectancy is significantly reduced, often because of complications related to dilated cardiomyopathy. No clear genotype-phenotype correlation has been established.

This gene is included on the following panel(s):