Phenotype #0000272306

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00377141
Associated disease	PHA1B
Phenotype details	HP:0001945, HP:0002789, HP:0002902, HP:0002153, HP:0001944, HP:0002205, HP:0030828, HP:0012735, HP:0002013, HP:0002014, HP:0001824, HP:0001047, HP:0001942, HP:0000848, HP:0000859, HP:0012236, HP:0003119
Diagnosis/Initial	Congenital adrenal hyperplasia (CAH)
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Systemic pseudohypoaldosteronism
Age/Examination	-
Age/Diagnosis	<00y08m
Age/Onset	<00y01m
Phenotype/Onset	HP:0001945, HP:0002789, HP:0002902, HP:0002153, HP:0001944
Protein	-
Owner name	Susan Tzotzos
Database submission license
Created by	Susan Tzotzos
Date created	2021-07-08 13:38:28 +02:00 (CEST)
Date last edited	2021-07-21 14:24:57 +02:00 (CEST)