Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000058822 Individual ID 00079063 Associated disease GACI1 Phenotype details calcification aorta, diverse arteries, pulmonary arteries, renal arteries, endo- cardium; painful wrist calcifications in the neonatal period in hip, shoulder, wrist; genu valgum, angioid streaks in the Bruch’s membrane, deafness, cutaneous hyperlaxity, hypophosphatemic rickets developed at 3 years, stapedovestibular ankylosis leading to hearing loss; no bisphosphonates; no hypophosphatemia Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 3y (3 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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