Global Variome shared LOVD

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Phenotype #0000299773 Individual ID 00407608 Associated disease - Phenotype details best corrected visual acuity right/left eye: 20/200/20/200, refraction:+4/+4, kinetic visual field extent (V-4e) right/left eye: <1/<1, electroretinogram: not detectable, loss of full-field sensitivity compared with normal in log units and type of photoreceptor mediation: cone; 24 Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Leber congenital amaurosis Age/Examination 13y (13 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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