Phenotype #0000285740

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00392464
Associated disease	XLHR
Phenotype details	see paper; ..., no lower extremity bowing, no osteotomies, many dental abscesses; phosphate treatment as child, 1,25-dihydroxyvitaminD2 treatment; parathyroidectomy, seizures, developmental delay
Diagnosis/Initial	hypophosphatemic rickets
Inheritance	Familial, X-linked
Diagnosis/Definite	XLHR
Age/Examination	12y (12 years)
Age/Diagnosis	4m
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-11-22 17:33:19 +01:00 (CET)
Date last edited	N/A

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