Global Variome shared LOVD

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

Phenotype #0000274570 Individual ID 00380717 Associated disease SRTD6;SRPS2A Phenotype details prenatal ultrasound abnormalities: Short diaphyses, Ascites, Thickened nuchal skin fold, Hyperechogenic kidneys, Renal cyst, Atrioventricular canal defect, Bladder outlet obstruction Diagnosis/Initial prenatal Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2021-08-20 10:39:03 +02:00 (CEST) Date last edited 2021-08-23 08:27:47 +02:00 (CEST)

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