Phenotype #0000058815

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00079056
Associated disease	GACI1
Phenotype details	calcification aorta, coronary arteries, pulmonary arteries; LV dysfunction, cardiomegaly,; brain calcification, kidney calcification; bisphosphonates pamidronate; no hypophosphatemia, no hypophosphaturia
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Yvonne Nitschke
Database submission license	No license selected
Created by	Yvonne Nitschke
Date created	2016-07-15 10:44:28 +02:00 (CEST)
Date last edited	N/A

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