Phenotype #0000238851

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00315099
Associated disease	kidney disease
Diagnosis/Initial	renal coloboma syndrome
Diagnosis/Definite	-
Phenotype details	46,XY karyotype. Apparently de novo.; Optic nerve coloboma-bilateral; retinal coloboma-bilateral; bilateral renal hypoplasia; 9y-abnormal EEG with clonic seizures; 2y-end stage renal disease
Inheritance	Isolated (sporadic)
Age/Examination	-
Age/Diagnosis	3m
Age/Onset	3m
Phenotype/Onset	-
Owner name	Matthew Bower
Database submission license	No license selected
Created by	Matthew Bower
Date created	2011-06-21 00:20:42 +02:00 (CEST)
Date last edited	2012-01-09 18:39:44 +01:00 (CET)

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