Phenotype #0000285382

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00392104
Associated disease	XLHR
Phenotype details	see paper; ..., severe bone phenotype, height (SD-1.65), phosphate serum level 2.1 mg/dl, tubular reabsorption of phosphate 0.83, parathyroid hormone 23 pg/mL, alkaline phosphatase 448, nephrocalcinosis, no hyperparathyroidism
Diagnosis/Initial	hypophosphatemic rickets
Inheritance	Isolated (sporadic)
Diagnosis/Definite	XLHR
Age/Examination	-
Age/Diagnosis	4y
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission 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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