Severe hypophosphatasia
MONDO:0600009A rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization. Individuals often present with these features in infancy or in the perinatal period.
0 clinical trials for this condition and its sub-types, 0 tagged with Severe hypophosphatasia itself.
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