Phenotype #0000126365

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00153688
Associated disease	ATS2
Phenotype details	hearing loss (HP:0000365); no ocular changes; GBM pathology Basket-weave changes; 11y-renal failure (HP:0000083); hematuria (HP:0000790); proteinuria (HP:0000093)
Diagnosis/Initial	Alport syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	syndrome, Alport, autosomal recessive (ASAR)
Age/Examination	18y (18 years)
Age/Diagnosis	-
Age/Onset	-
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	2018-02-21 12:26:09 +01:00 (CET)

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