Global Variome shared LOVD

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Phenotype #0000296670 Individual ID 00404078 Associated disease neuropathy, optic Phenotype details Optic atrophy (HP:0000648); Dyschromatopsia (HP:0007641); Central scotoma (HP:0000603); Moderately reduced visual acuity (HP:0030515); Retinal thinning (HP:0030329); Family history (HP:0032316) Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal dominant Age/Examination 16y (16 years) Age/Diagnosis - Age/Onset 02y Phenotype/Onset - Protein - Owner name Marc Ferre Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Marc Ferre Date created 2022-02-26 08:05:52 +01:00 (CET) Date last edited 2022-02-26 14:24:40 +01:00 (CET)

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