The specific problems produced differ according to the particular abnormal synthesis involved. Common manifestations include ataxia; seizures; retinopathy; liver disease; coagulopathies; failure to thrive (FTT); dysmorphic features (e.g., inverted nipples and subcutaneous fat pads), pericardial effusion, and hypotonia. If an MRI is obtained; cerebellar hypoplasia is a common finding. Ocular abnormalities of<unk> -Ia include: myopia, infantile esotropia, delayed visual maturation, peripheral neuropathy (PN), strabismus, nystagmus, optic disc pallor, and reduced rod function on electroretinography.Three subtypes PMM2-CDG, PMI-CDG, ALG6-CDG can cause<unk>  hyperinsulinism with hyperinsulinemic hypoglycemia in infancy.
Congenital disorder of glycosylation
GM2 gangliosidoses
GM1 gangliosidoses
Mucopolysaccharidosis
Inborn errors of carbohydrate metabolism
Sphingolipidoses
Lysinuric protein intolerance
Infantile free sialic acid storage disease