Phenotype #0000285387

Individual ID	00392109
Associated disease	XLHR
Phenotype details	see paper; ..., moderate bone phenotype, height (SD-3.23), phosphate serum level 2.6 mg/dl, tubular reabsorption of phosphate 0.776, 25 hydroxy vitamin D 30 ng/mL, 1,25 dihydroxi vitamin D 41 pg/ml, parathyroid hormone 43 pg/mL, alkaline phosphatase 1389, nephrocalcinosis after treatment, no hyperparathyroidism
Diagnosis/Initial	hypophosphatemic rickets
Inheritance	Isolated (sporadic)
Diagnosis/Definite	XLHR
Age/Examination	-
Age/Diagnosis	3y2m
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

Global Variome shared LOVD