Phenotype #0000274570

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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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
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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