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.
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Disease
(680)
Metabolic disease
(233)
Hereditary disease
(176)
Inborn errors of metabolism
(45)
Human disease
(14)
Hypophosphatasia
(13)
Developmental defect during embryogenesis
(8)
Autosomal recessive disease
(4)
Disease of genetic or genomic mechanism
(2)
ALPL-related autosomal recessive hypophosphatasia
(0)
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