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Several studies have shown that the incidence of cystinuria in mentally retarded populations is higher than it is in the general population. The present study found that a group of cystinurics did not differ significantly in their intelligence from their normal siblings or intelligence test norms. Since cystinuria is a heterogeneous disease, the findings of the present study could be reconciled with previous findings by supposing that only certain genotypes for cystinuria lead to mental retardation.
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