Global Variome shared LOVD

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Phenotype #0000285384 Individual ID 00392106 Associated disease XLHR Phenotype details see paper; ..., severe bone phenotype, height (SD-2.26), phosphate serum level 2.0 mg/dl, tubular reabsorption of phosphate 0.59, 1,25 dihydroxi vitamin D 30.1 pg/ml, parathyroid hormone 57 pg/mL, alkaline phosphatase 1010, nephrocalcinosis, hyperparathyroidism after treatment Diagnosis/Initial hypophosphatemic rickets Inheritance Isolated (sporadic) Diagnosis/Definite XLHR Age/Examination - Age/Diagnosis 1y2m 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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