Global Variome shared LOVD

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Phenotype #0000171280 Individual ID 00226166 Associated disease PHA1B Phenotype details Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841), renal salt wasting (HP:0000127), elevated sweat chloride (HP:0012236), recurrent pulmonary infections (HP0002205), skin rashes (HP:0001047) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset <00y01m Phenotype/Onset Hyperbilirubinemia (HP:0002904) Protein - Owner name Susan Tzotzos Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Susan Tzotzos Date created 2019-03-01 10:52:34 +01:00 (CET) Date last edited 2019-03-08 19:26:29 +01:00 (CET)

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