Global Variome shared LOVD

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Phenotype #0000175609 Individual ID 00235345 Associated disease PHA1B Phenotype details Vomiting (HP:0002013), poor feeding (HP:0008872), weight loss (HP:0001824), skin rash (HP:0001047), hyponatremia (HP:0002902), hyperkalemia (HP:0002153), elevated sweat chloride (HP:0012236), tachycardia (HP:0001649), tachypnea (HP:0002789), metabolic acidosis (HP:0001942), renal salt wasting (HP:0000127), hyperaldosteronism (HP:0000859). Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset <00y01m Phenotype/Onset Vomiting (HP:0002013), poor feeding (HP:0008872), weight loss (HP:0001824) Protein - Owner name Susan Tzotzos Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Susan Tzotzos Date created 2019-05-23 15:06:40 +02:00 (CEST) Date last edited 2021-02-09 09:31:47 +01:00 (CET)

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