Phenotype #0000238982

Individual ID	00315230
Associated disease	kidney disease
Diagnosis/Initial	renal coloboma syndrome
Diagnosis/Definite	-
Phenotype details	Undescended testes, unilateral cleft lip, agenesis of the corpus callosum, pes calcaneus, ; reduced visual acuity, hypotropia, optic nerve hypoplasia, absent optic chiasm; Echogenic renal parenchyma, multicystic kidneys, bilateral renal hypoplasia, posterior urethral valves, VUR; absent optic chiasm, agenesis of the corpus callosum; 4y-end stage renal disease
Inheritance	Isolated (sporadic)
Age/Examination	-
Age/Diagnosis	0m
Age/Onset	0m
Phenotype/Onset	-
Owner name	Matthew Bower
Database submission license	No license selected
Created by	Matthew Bower
Date created	2012-04-06 20:52:04 +02:00 (CEST)
Date last edited	2012-04-06 20:55:23 +02:00 (CEST)

Global Variome shared LOVD