severe hypophosphatasia
A 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.
MONDO:0100609
ALPL-related autosomal recessive hypophosphatasia
is_a
SPAC824.07