Global Variome shared LOVD

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Phenotype #0000285393 Individual ID 00392115 Associated disease XLHR Phenotype details see paper; ..., severe bone phenotype, height (SD0.64), phosphate serum level 3.7 mg/dl, tubular reabsorption of phosphate 0.623, 25 hydroxy vitamin D 6.6 ng/mL, 1,25 dihydroxi vitamin D 13.8 pg/ml, parathyroid hormone 22 pg/mL, alkaline phosphatase 1204, nephrocalcinosis after treatment, no hyperparathyroidism Diagnosis/Initial hypophosphatemic rickets Inheritance Familial, X-linked Diagnosis/Definite XLHR Age/Examination - Age/Diagnosis 5m 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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