Phenotype #0000288286

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00395086
Associated disease	XLHR
Phenotype details	severe bowing of legs at deambulation; severe bowing of legs, cupping and fraying of femoral metaphyses, irregular widened epiphyseal plates
Diagnosis/Initial	hypophosphatemic rickets
Inheritance	Familial, X-linked dominant
Diagnosis/Definite	XLHR
Age/Examination	-
Age/Diagnosis	20m
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-12-03 14:10:54 +01:00 (CET)
Date last edited	N/A

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