Global Variome shared LOVD

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Phenotype #0000171293 Individual ID 00226183 Associated disease PHA1B Phenotype details Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), metabolic acidosis (HP:0001942), elevated sweat chloride (HP:0012236), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841), tachycardia (HP:0001649), recurrent respiratory infections (HP:0002205) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset <00y01m Phenotype/Onset Vomiting (HP:0002013), dehydration (HP:0001944), lethargy (HP:0001254) 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 15:48:45 +01:00 (CET) Date last edited 2019-03-08 19:29:24 +01:00 (CET)

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