Global Variome shared LOVD

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Phenotype #0000201770 Individual ID 00263408 Associated disease PHA1B Phenotype details Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), elevated sweat chloride (HP:0012236), skin rash (HP:0001047), hyperaldosteronism (HP:0000859), recurrent pharyngitis (HP:0100776) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset <00y01m Phenotype/Onset Vomiting (HP:0002013), weight loss (HP:0001824), feeding difficulties (HP:0008872), dehydration (HP:0001944) Protein - Owner name Susan Tzotzos Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Susan Tzotzos Date created 2019-08-27 14:59:39 +02:00 (CEST) Date last edited 2019-08-30 19:25:20 +02:00 (CEST)

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