Perinatal lethal hypophosphatasia
MONDO:0016605A rare, genetic form of hypophosphatasia (HPP) characterized by markedly impaired bone mineralization in utero due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth.
Also known as: HPPN, perinatal lethal Rathburn disease, perinatal lethal phosphoethanolaminuria, hypophosphatasia, perinatal lethal
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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