Global Variome shared LOVD

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Phenotype #0000092609 Individual ID 00117376 Associated disease VDDR1B Phenotype details age onset 2-7y; before treatment had low normal serum calcium levels (2.00–2.32 mM; normal 2.12–2.62), low serum phosphate levels (0.84–0.87 mM; normal 0.97–1.45), elevated serum alkaline phosphatase levels (2,360–3,000 u/l; normal 100–320), serum 1alpha,25-dihydroxyvitamin D levels (137–142 pM, normal 48–182), low 25-hydroxyvitamin D levels (10–12 nM; normal 25–137) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset bone abnormalities lower extremities Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2017-08-25 12:28:33 +02:00 (CEST) Date last edited N/A

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