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Among the most common clinical presentations are perinatal asphyxia, hyperkeratosis, developmental disability, hypotonia, severe microcephaly, dysmorphia, skin abnormalities, psychomotor and growth retardation, skeletal deformities, microcephaly, recurrent epilepsies, hepatosplenomegaly, gastrointestinal pseudo-obstruction, renal and cardiac abnormalities (Tegtmeyer et al., 2014