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Perinatal lethal hypophosphatasia

MONDO:0016605

A 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, 0 tagged with Perinatal lethal hypophosphatasia itself.

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