Phenotype #0000238829

Individual ID 00315077
Associated disease kidney disease
Diagnosis/Initial renal coloboma syndrome
Diagnosis/Definite -
Phenotype details Hypoplastic superior ear helices; upslanting palpebral fissures; bulbous nose; hyperplastic gingiva. Hearing loss (unilateral). 46,XX karyotype.; Optic nerve coloboma-bilateral; amblyopia; bilateral renal hypoplasia; focal segmental glomerulosclerosis; 18y-renal transplant
Inheritance Isolated (sporadic)
Age/Examination -
Age/Diagnosis -
Age/Onset 3y
Phenotype/Onset -
Owner name Matthew Bower
Database submission license No license selected
Created by Matthew Bower
Date created 2011-06-20 18:56:55 +02:00 (CEST)
Date last edited N/A

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