COG5 and neuronal ceroid lipofuscinosis: Other notable symptoms included scoliosis (Guanidinoacetate methyltransferase deficiency, ALG6-CDG, PMM2-CDG and neuronal ceroid lipofuscinosis), brachydactyly (ALG8-CDG), joint laxity (ALG8-CDG and Mucopolysaccharidosis type 2), diarrhea (ALG8-CDG, PMM2-CDG and aromatic L-amino acid decarboxylase deficiency), cryptorchidism (ALG8-CDG, ALG6-CDG, PMM2-CDG and COG5-CDG), and kidney stones (Lesch-Nyhan syndrome), each observed in multiple patients.