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There are a few things that you need to know so that you can suspect such a diagnosis. There are some common features. By and large, the diseases are inherited as two carriers with autosomal recessive genes so the appearance of an affected child may be unexpected. The diseases seem commoner in the Ashkenazi Jewish population and many undergo screening so that couples can understand the risks. As you will know even with 2 carriers the chances of an affected child are 1 in 4.