Phenotype #0000058821

Individual ID 00079062
Associated disease GACI1
Phenotype details calcification aorta, coronary arteries, diverse arteries, pulmonary arteries; periarticular calcifications hips, ankles, wrists, shoulders; hypertension in neonatal period; angioid streaks in retina, cutaneous hyperlaxity, angioid skin spots, genu valgum hypophosphatemic rickets, pseudoxanthomatous lesions on the neck; bisphosphonatesclodronate p.o.; resolution of calcifications
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 10y (10 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

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