Phenotype #0000171401

Individual ID 00226275
Associated disease PHA1B
Phenotype details Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), metabolic acidosis (HP:0001942), hyperaldosteronism (HP:0000859), elevated plasma renin activity (HP:0000841), elevated sweat chloride (HP:0012236), renal salt wasting (HP:0000127), seborrheic dermatitis (HP:0007569)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset <00y01m
Phenotype/Onset Lethargy (HP:0001254), inability to feed (HP:0008872)
Protein -
Owner name Susan Tzotzos
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Susan Tzotzos
Date created 2019-03-06 14:53:02 +01:00 (CET)
Date last edited 2021-02-05 17:22:53 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.