Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000238830 Individual ID 00315078 Associated disease kidney disease Diagnosis/Initial renal coloboma syndrome Diagnosis/Definite - Phenotype details Soft skin; hyperelasticity; gingival hyperplasia.; Optic nerve coloboma-bilateral; Abnormal retinal pigment epithelium; Renal hypoplasia-bilateral, Echogenic kidneys, Poor corticomedullary differentiation; Chiari malformation type 1; prenatal oligohydramnios, breech presentation.; 3y-renal transplant Inheritance Familial Age/Examination - Age/Diagnosis 1m Age/Onset 1m Phenotype/Onset - Owner name Matthew Bower Database submission license No license selected Created by Matthew Bower Date created 2011-06-20 19:05:51 +02:00 (CEST) Date last edited N/A

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