Phenotype #0000171255

Individual ID 00226143
Associated disease PHA1B
Phenotype details Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), metabolic acidosis (HP:0001942)
Diagnosis/Initial Congenital adrenal hyperplasia (CAH)
Inheritance Familial, autosomal recessive
Diagnosis/Definite PHA1B
Age/Examination -
Age/Diagnosis <00y01m
Age/Onset <00y01m
Phenotype/Onset -
Protein -
Owner name Susan Tzotzos
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Susan Tzotzos
Date created 2019-02-28 11:20:44 +01:00 (CET)
Date last edited 2019-03-01 10:09:09 +01:00 (CET)

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