The study showed that hypotonia and developmental delay were the most common symptoms, epilepsy was present in the majority of the patients. Besides this, Morava found also a high percentage of other neurological symptoms, including absent speech, ataxia, proximal muscle weakness and visual loss. Several patients had behavioural abnormalities, including sleep disturbance, autistic behaviour, mood swings and periods of inertia alternating with periods of aggressive behaviour, which is unusual for most CDG-I patients.
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