Global Variome shared LOVD

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

Phenotype #0000171238 Individual ID 00226124 Associated disease PHA1B Phenotype details Failure to thrive (HP:0001508), dehydration (HP:0001944), hyponatremia (HP:0002902); hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841), elevated sweat choride (HP:0012236) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset <00y01m Phenotype/Onset Failure to thrive (HP:0001508), dehydration (HP:0001944), cyanosis (HP:0000961), bradycardia (HP:0001662), hypothermia (HP:0002045) Protein - Owner name Susan Tzotzos Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Susan Tzotzos Date created 2019-02-27 11:01:14 +01:00 (CET) Date last edited 2019-02-28 08:34:10 +01:00 (CET)

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