Phenotype #0000238827

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00315075
Associated disease	kidney disease
Diagnosis/Initial	renal coloboma syndrome
Diagnosis/Definite	-
Phenotype details	Soft skin; 46,XY karyotype; Esotropia; exophthalmos; Absent optic nerve head-unilateral; bilateral renal hypoplasia; developmental delay; microcephaly; 14y-renal transplant
Inheritance	Familial, autosomal dominant
Age/Examination	-
Age/Diagnosis	-
Age/Onset	4m
Phenotype/Onset	-
Owner name	Matthew Bower
Database submission license	No license selected
Created by	Matthew Bower
Date created	2011-06-18 16:53:15 +02:00 (CEST)
Date last edited	2011-06-20 19:58:42 +02:00 (CEST)

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