Phenotype #0000220902

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00287168
Associated disease	BARTS3
Phenotype details	salt wasting, hypokalaemia, metabolic alkalosis, Asthenia, polydipsia, cramps, tingling, abdominal pain, polyuria, heart problems, tetany, hyperpyrexia
Diagnosis/Initial	Bartter syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Bartter syndrome type 3
Age/Examination	23y (23 years)
Age/Diagnosis	23y
Age/Onset	23y
Phenotype/Onset	-
Protein	-
Owner name	Dr Silvana Tedeschi
Database submission license	No license selected
Created by	Dr Silvana Tedeschi
Date created	2020-02-13 13:30:44 +01:00 (CET)
Date last edited	2020-02-17 16:29:31 +01:00 (CET)

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