Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes

► Presenting the ninth published case of the recessive disorder ALG8-CDG (CDG-Ih). ► Comparison of phenotypes and genotypes in the previous reported ALG8-CDG cases. ► Show clinical utility of exome sequencing for genetically heterogeneous disorders.