Phenotype #0000238987

Individual ID 00315235
Associated disease kidney disease
Diagnosis/Initial renal coloboma syndrome
Diagnosis/Definite -
Phenotype details Bilateral hearing loss, abnormal ear helices; Right optic nerve dysplasia, excavation of optic disc. Left eye normal; Proteinuria age 1. Hypoplastic hyperechoic kidneys.; kidney the renal biopsy identified ten enlarged glomeruli and signs of secondary segmental and focal glomerulosclerosis; 1y-end stage renal disease
Inheritance Isolated (sporadic)
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Owner name Matthew Bower
Database submission license No license selected
Created by Matthew Bower
Date created 2013-01-30 18:42:05 +01:00 (CET)
Date last edited N/A

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