Global Variome shared LOVD

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

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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