Very rare disease (about 30 patients described)
Autosomal recessive disease. The clinical phenotype related to mutation of COG6 gene (MIM *606977) is named COG6-CDG (OMIM #614576), except in the case of the deep intronic splice site mutation (c.1167-24A > G), which results in Shaheen syndrome (OMIM #615328), a milder phenotype than severe COG6-CDG.
Main features are growth retardation, microcephaly, cerebral malformation, developmental disability, liver or gastrointestinal disease, hepatosplenomegaly, heart defects, disorder of sexual differentiation, recurrent infections, hypohidrosis/hyperthermia and hyperkeratosis, early death.
COG6