Phenotype #0000078821

Individual ID 00100610
Associated disease PASNA
Phenotype details 0d-hypertension, biventricular hypertrophy, ventricular septal defect, pulmonary hypertension, second-degree heart block; elevated aldosterone levels, high aldosterone/renin ratio; uncontrolled hypertension, hypokalemia; treatment with calcium channel blocker, amlodipine, normalized blood pressure, and biventricular hypertrophy resolved; seizure disorder, apparent cerebral palsy, cortical blindness, complex neuromuscular abnormalities
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 03y (3 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2017-03-05 10:55:39 +01:00 (CET)
Date last edited 2017-03-05 14:51:25 +01:00 (CET)

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