Phenotype #0000173462

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