Phenotype #0000058810

Individual ID	00079051
Associated disease	GACI1
Phenotype details	calcification aorta, pulmonary arteries, heart valves; periarticular calcifications shoulders, hip, knee; pericardial effusion, LV hypertrophy, dilated RV, hypertension,; polyhydramnios, fetal hydrops, nephrocalcinosis, cerebral atrophy, ascites, abdominal aorta narrowed under diaphragm, spastic tetraparesis with dystonic component; no bisphosphonates; spontaneous resolution of calcifications
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	6y (6 years)
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