Global Variome shared LOVD

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

Phenotype #0000220902 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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