Phenotype #0000171284

Individual ID 00226170
Associated disease PHA1B
Phenotype details Elevated sweat chloride (HP:0012236), high concentrations of Cl- and Na+ in saliva and sweat
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset <00y01m
Phenotype/Onset Salt wasting (HP:0000127), electrolyte disturbances
Protein -
Owner name Susan Tzotzos
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Susan Tzotzos
Date created 2019-03-01 11:51:20 +01:00 (CET)
Date last edited 2019-03-08 19:27:24 +01:00 (CET)

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