Phenotype #0000126503

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00153826
Associated disease	ATS3A
Phenotype details	41y-hearing loss (HP:0000365); ocular changes; 31y-renal failure (HP:0000083), 42y-retinopathy; hematuria (HP:0000790); proteinuria (HP:0000093)
Diagnosis/Initial	Alport syndrome
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	syndrome, Alport, autosomal dominant (ASAD)
Age/Examination	52y (52 years)
Age/Diagnosis	-
Age/Onset	24y
Phenotype/Onset	-
Protein	-
Owner name	Judy Savige
Database submission license
Created by	Johan den Dunnen
Date created	2018-02-19 09:42:17 +01:00 (CET)
Date last edited	N/A

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