Global Variome shared LOVD

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Phenotype #0000299767 Individual ID 00407602 Associated disease - Phenotype details best corrected visual acuity right/left eye: no light perception /light perception , refraction:+8.5/+7.5, kinetic visual field extent (V-4e) right/left eye: not detectable/not detectable, electroretinogram: not detectable, loss of full-field sensitivity compared with normal in log units and type of photoreceptor mediation: not availab Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Leber congenital amaurosis Age/Examination 24y (24 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-04-06 20:53:36 +02:00 (CEST) Date last edited N/A

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