Phenotype #0000267020

Individual ID	00371680
Associated disease	PHA1B
Phenotype details	Dehydration, HP:0001944; elevated sweat chloride, HP:0012236; feeding difficulties, HP:0008872; raised plasma renin activity, HP:0000841; hyperaldosteronism, HP:0000859; hyperkalemia, HP:0002153; hyponatremia, HP:0002902; metabolic acidosis, HP:0001942; recurrent respiratory infections, HP:0002205; lethargy, HP:0001254; renal salt wasting, HP:0000127; vomiting, HP:0002013; skin rash, HP:0001047
Diagnosis/Initial	Congenital adrenal hyperplasia (CAH)
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Autosomal recessive pseudohypoaldosteronism PHA1B)
Age/Examination	-
Age/Diagnosis	00y02m
Age/Onset	<00y01m
Phenotype/Onset	Dehydration, HP:0001944; feeding difficulties, HP:0008872; hyperkalemia, HP:0002153; hyponatremia, HP:0002902; metabolic acidosis, HP:0001942; lethargy, HP:0001254; vomiting, HP:0001047
Protein	-
Owner name	Susan Tzotzos
Database submission license
Created by	Susan Tzotzos
Date created	2021-05-04 15:40:03 +02:00 (CEST)
Date last edited	2021-05-05 17:03:47 +02:00 (CEST)

Global Variome shared LOVD