Phenotype #0000285364

Individual ID 00392086
Associated disease XLHR
Phenotype details see paper; ..., severe bone phenotype, height (SD-2.34), phosphate serum level 2.8 mg/dl, tubular reabsorption of phosphate 0.784, 25 hydroxy vitamin D 29.7 ng/mL, 1,25 dihydroxi vitamin D 73 pg/ml, parathyroid hormone 28 pg/mL, alkaline phosphatase 378, nephrocalcinosis after treatment, no hyperparathyroidism
Diagnosis/Initial hypophosphatemic rickets
Inheritance Familial, X-linked
Diagnosis/Definite XLHR
Age/Examination -
Age/Diagnosis 1y4m
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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