Phenotype #0000105566

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00132803
Associated disease	CEP
Phenotype details	see paper; required red cell transfusions , significant periods during adolescence without treatment, marked cutaneous involvement resulting from unprotected sunlight exposure
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	20y (20 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2017-11-09 17:24:28 +01:00 (CET)
Date last edited	2017-11-09 17:43:32 +01:00 (CET)

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