COG7-CDG is clinically mainly characterized by microcephaly, growth deficiency, dysmorphism, hyperthermia, skin and cardiac involvement and early lethality. Its prevalence is unknown. Inheritance is autosomal recessive.
COG7-CDG is clinically mainly characterized by microcephaly, growth deficiency, dysmorphism, hyperthermia, skin and cardiac involvement and early lethality. Its prevalence is unknown. Inheritance is autosomal recessive.