Phenotype #0000058831

Individual ID	00079072
Associated disease	GACI1
Phenotype details	calcification aorta, coronary arteries, diverse arteries, renal arteries; no periarticular calcifications; pericardial effusion, myocardial hypertrophy, cardiac dilatation, bicuspid aortic valve, decreased contractility, interstitial oedema of myocardium; hydrops fetalis, ascites, pleural effusion, hepatosplenomegaly, periventricular leukomalacia, white matter gliosis; no bisphosphonates
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	1d
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

Global Variome shared LOVD