Phenotype #0000285368

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00392090
Associated disease	XLHR
Phenotype details	see paper; ..., moderate bone phenotype, nephrocalcinosis after treatment, no hyperparathyroidism
Diagnosis/Initial	hypophosphatemic rickets
Inheritance	Isolated (sporadic)
Diagnosis/Definite	XLHR
Age/Examination	-
Age/Diagnosis	1y5m
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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