For COG4-CDG, seizures, hypotonia, intellectual disability, microcephaly and elevated transaminases are observed in patients.
For Saul-Wilson syndrome, profound short stature if prenatal onset, clubfoot, telebrachydactyly, progeroid features in the neonatal period, enlarged anterior fontanel, recurrent ear infections, hearing loss, cataracts, retinal pigmentary changes, neutropenia and elevated transaminases are observed in patients.