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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