Congenital Disorder of Glycosylation, Type Ic (ALG6)
Congenital disorder of glycosylation, type Ic is a rare autosomal recessive disease which is caused by pathogenic variants in the gene ALG6. It does not appear to have an ethnic predisposition. Clinical features are variable, but include hypotonia, developmental delay, and neurological symptoms including seizures and poor eye control. In adolescence and adulthood, features include coagulopathies and deep vein thrombosis, as well as hormonal imbalances. While some patients survive to adulthood, others may succumb to fatal seizures or coagulopathies at younger ages. No genotype-phenotype correlation has been reported.<
For information about carrier frequency and residual risk, please see the residual risk table.