Phenotype #0000070484

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00091962
Associated disease	Healthy/Control
Phenotype details	Proband, female cousin and 2 paternal aunts are heterozygous for the mutation and have mild haematuria. Father, paternal grandmother and one paternal aunt reached ESRD at 30, 54, and 42 yrs. No ocular or hearing abnormalities observed in any family member.
Diagnosis/Initial	-
Inheritance	Unknown
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Judy Savige
Database submission license	No license selected
Created by	Judy Savige
Date created	2013-12-23 12:58:58 +01:00 (CET)
Date last edited	N/A

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