Phenotype #0000285363

Individual ID 00392085
Associated disease XLHR
Phenotype details see paper; ..., severe bone phenotype, height (SD-3.38), phosphate serum level 2.3 mg/dl, tubular reabsorption of phosphate 0.564, 1,25 dihydroxi vitamin D 13.2 pg/ml, parathyroid hormone 21 pg/mL, alkaline phosphatase 766, nephrocalcinosis after treatment, no hyperparathyroidism
Diagnosis/Initial hypophosphatemic rickets
Inheritance Familial, X-linked
Diagnosis/Definite XLHR
Age/Examination -
Age/Diagnosis 9y
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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