Global Variome shared LOVD

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Phenotype #0000285372 Individual ID 00392094 Associated disease XLHR Phenotype details see paper; ..., severe bone phenotype, height (SD-3.35), phosphate serum level 2.1 mg/dl, tubular reabsorption of phosphate 0.32, 25 hydroxy vitamin D 27.5 ng/mL, 1,25 dihydroxi vitamin D 16 pg/ml, parathyroid hormone 68 pg/mL, alkaline phosphatase 1646, nephrocalcinosis after treatment, no hyperparathyroidism Diagnosis/Initial hypophosphatemic rickets Inheritance Isolated (sporadic) Diagnosis/Definite XLHR Age/Examination - Age/Diagnosis 1y6m Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-11-21 10:41:24 +01:00 (CET) Date last edited N/A

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