Global Variome shared LOVD

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Phenotype #0000185980 Individual ID 00246128 Associated disease AN Phenotype details best corrected visual acuity R/L 0.02/0.02; no aniridia-related keratopathy; complete aniridia; cataract; no glauvoma; macular hypoplasia; nystagmus; no strabismus ; no ptosis; normal psychomotor development Diagnosis/Initial congenital aniridia Inheritance Familial, autosomal dominant Diagnosis/Definite AN-1 Age/Examination 37y (37 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-07-12 09:17:59 +02:00 (CEST) Date last edited N/A

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