Phenotype #0000238887

Individual ID	00315135
Associated disease	kidney disease
Diagnosis/Initial	renal coloboma syndrome
Diagnosis/Definite	-
Phenotype details	Short stature. 46,XY karyotype.; Optic nerve coloboma-bilateral; myopia; strabismus; nystagmus; Vesicoureteral reflux-bilateral, renal hypoplasia-bilateral; 15y-end stage renal disease
Inheritance	Familial, autosomal dominant
Age/Examination	-
Age/Diagnosis	-
Age/Onset	18m
Phenotype/Onset	-
Owner name	Matthew Bower
Database submission license	No license selected
Created by	Matthew Bower
Date created	2011-06-22 02:26:01 +02:00 (CEST)
Date last edited	2012-01-13 03:42:38 +01:00 (CET)

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