Phenotype #0000285381

Individual ID 00392103
Associated disease XLHR
Phenotype details see paper; ..., severe bone phenotype, height (SD-2.97), phosphate serum level 2.5 mg/dl, tubular reabsorption of phosphate 0.78, 25 hydroxy vitamin D 28 ng/mL, 1,25 dihydroxi vitamin D 53 pg/ml, parathyroid hormone 66 pg/mL, alkaline phosphatase 1020, nephrocalcinosis after treatment, no hyperparathyroidism
Diagnosis/Initial hypophosphatemic rickets
Inheritance Isolated (sporadic)
Diagnosis/Definite XLHR
Age/Examination -
Age/Diagnosis 2y8m
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
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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