Global Variome shared LOVD

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Phenotype #0000285373 Individual ID 00392095 Associated disease XLHR Phenotype details see paper; ..., severe bone phenotype, height (SD-2.24), phosphate serum level 2.8 mg/dl, tubular reabsorption of phosphate 0.582, 1,25 dihydroxi vitamin D 21.9 pg/ml, parathyroid hormone 49 pg/mL, alkaline phosphatase 1699, nephrocalcinosis after treatment, hyperparathyroidism after treatment Diagnosis/Initial hypophosphatemic rickets Inheritance Isolated (sporadic) Diagnosis/Definite XLHR Age/Examination - Age/Diagnosis 7y 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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