Phenotype #0000173462

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00230978
Associated disease	ECYT1
Phenotype details	Diagnosed at age 14 with erythrocytosis, mild splenomegaly, mild hypertension, and normal serum EPO, which were consistent with PFCP, congenital erythrocytosis
Diagnosis/Initial	erythrocytosis
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	ECYT-1
Age/Examination	-
Age/Diagnosis	14y
Age/Onset	41y
Phenotype/Onset	-
Protein	-
Owner name	Celeste Bento
Database submission license	No license selected
Created by	Celeste Bento
Date created	2012-08-10 13:20:49 +02:00 (CEST)
Date last edited	N/A

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