Global Variome shared LOVD

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Phenotype #0000340249 Individual ID 00451574 Associated disease ? Diagnosis/Initial congenital stationary night-blindness Diagnosis/Definite RP45 Phenotype details no night vision; day vision 20/80; normal color vision; no nystagmus; no corneal haze; no photophobia Inheritance Familial, autosomal recessive Age/Examination 11y (11 years) Age/Diagnosis - Age/Onset <1y Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Rabia Basharat Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-06-10 15:00:36 +02:00 (CEST) Date last edited N/A

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