Global Variome shared LOVD

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Phenotype #0000246129 Individual ID 00327902 Associated disease neuropathy, optic Phenotype details Severely reduced visual acuity (HP:0001141); Sudden loss of visual acuity (HP:0001117); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Strabismus (HP:0000486); Abnormality of visual evoked potentials (HP:0000649); Red-green dyschromatopsia (HP:0000642); Nystagmus (HP:0000639) Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal recessive Age/Examination <10y (before 10 years) Age/Diagnosis 05y Age/Onset 02y Phenotype/Onset - Protein - Owner name Aude Rocatcher Database submission license Creative Commons Attribution 4.0 International Created by Aude Rocatcher Date created 2021-01-27 11:07:00 +01:00 (CET) Date last edited 2021-02-26 08:43:24 +01:00 (CET)

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