Phenotype #0000285377

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00392099
Associated disease	XLHR
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
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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