Phenotype #0000220903

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00287169
Associated disease	BARTS3
Phenotype details	salt wasting, hypokalaemia, metabolic alkalosis, Slowing growth, vomit, polyuria, anorexia, iperuricemia
Diagnosis/Initial	Bartter syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Bartter syndrome type 3
Age/Examination	00y05m (5 months)
Age/Diagnosis	-
Age/Onset	00y05m
Phenotype/Onset	5m
Protein	-
Owner name	Dr Silvana Tedeschi
Database submission license	No license selected
Created by	Dr Silvana Tedeschi
Date created	2020-02-13 13:40:49 +01:00 (CET)
Date last edited	2020-02-17 16:27:50 +01:00 (CET)

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