Phenotype #0000238897

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00315145
Associated disease	kidney disease
Diagnosis/Initial	renal coloboma syndrome
Diagnosis/Definite	-
Phenotype details	Horizontal nystagmus; hypoplastic colobomatous optic papillae; hyperpigmented macula; rarefied RPE; Bilateral renal atrophy, cystic kidneys, cortical hyperechogenicity, no medullary differentiation.
Inheritance	Familial, autosomal dominant
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Matthew Bower
Database submission license	No license selected
Created by	Matthew Bower
Date created	2011-06-22 19:20:34 +02:00 (CEST)
Date last edited	2011-06-22 19:21:50 +02:00 (CEST)

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