Global Variome shared LOVD

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Phenotype #0000285377 Individual ID 00392099 Associated disease XLHRD Phenotype details see paper; ..., severe bone phenotype, height (SD-4.86), 25 hydroxy vitamin D 16 ng/mL, 1,25 dihydroxi vitamin D 28 pg/ml, parathyroid hormone 25 pg/mL, alkaline phosphatase 755, nephrocalcinosis after treatment, hyperparathyroidism after treatment Diagnosis/Initial hypophosphatemic rickets Inheritance Isolated (sporadic) Diagnosis/Definite XLHR Age/Examination - Age/Diagnosis 4y7m 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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