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An Entity of Type : prov:Entity, within Data Space : webisa.webdatacommons.org associated with source dataset(s)

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  • The patient is a six-year-old boy who presented hydrocephalus, severe psychomotor and growth retardation, facial dysmorphism and renal proximal tubulopathy associated with low-molecular-weight proteinuria, hypercalciuria, hyperaminoaciduria, hypophosphatemia and hyperuricemia.
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