Phenotype #0000238983

Individual ID 00315231
Associated disease kidney disease
Diagnosis/Initial renal coloboma syndrome
Diagnosis/Definite -
Phenotype details Atrial septal defect; soft skin; joint hyper mobility; Bilateral microphthalmos; Unilateral excavation of optic disc; unilateral morning glory anomaly; optic nerve coloboma; Right orbital retrobulbar cystic mass.; unilateral multicystic dysplastic kidney, Unilateral hypoplastic kidney, Vesicoureteral reflux; prenatal unilateral multicystic kidney
Inheritance Familial
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 2012-04-07 00:26:36 +02:00 (CEST)
Date last edited N/A

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