Global Variome shared LOVD

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Phenotype #0000230319 Individual ID 00303235 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details nystagmus; photophobia; night blindness; visual acuity (RE) around 20/200, visual acuity (LE) around 20/200, refractive error (RE) -3 (-1) 175°, refractive error (LE) -4.50 (-2) 170°; ERG electronegativity; temporal optic-disc pallor; no peripheral pigmentary migration; Macular SD-OCT normal; neurodevelopmental delay, eventually with no learning disability; ataxia; hyperactive and mild autistic behavior; delay in language acquisition; MRI brain normal; normal blood glucose Inheritance Familial, autosomal recessive Age/Examination 9y (9 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-06-08 17:02:49 +02:00 (CEST) Date last edited N/A

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