Phenotype #0000285396

Individual ID	00392118
Associated disease	XLHR
Phenotype details	see paper; ..., severe bone phenotype, height (SD-1.95), phosphate serum level 3.7 mg/dl, tubular reabsorption of phosphate 0.867, 25 hydroxy vitamin D 31 ng/mL, 1,25 dihydroxi vitamin D 56.3 pg/ml, parathyroid hormone 49 pg/mL, alkaline phosphatase 470, nephrocalcinosis after treatment, no hyperparathyroidism
Diagnosis/Initial	hypophosphatemic rickets
Inheritance	Isolated (sporadic)
Diagnosis/Definite	XLHR
Age/Examination	-
Age/Diagnosis	4y5m
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