Global Variome shared LOVD

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

Phenotype #0000171216 Individual ID 00226109 Associated disease PHA1B Phenotype details Elevated sweat chloride (HP:0012236), recurrent respiratory infections (HP:0002205) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 18y (18 years) Age/Diagnosis - Age/Onset <00y01m Phenotype/Onset Elevated sweat chloride (HP:0012236) salt wasting Protein - Owner name Susan Tzotzos Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Susan Tzotzos Date created 2019-02-26 16:22:25 +01:00 (CET) Date last edited 2019-02-28 08:34:34 +01:00 (CET)

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