Global Variome shared LOVD

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Phenotype #0000321617 Individual ID 00431008 Associated disease neuropathy, optic Phenotype details Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Seizure precipitated by febrile infection (HP:0032894); Abnormality of visual evoked potentials (HP:0000649); Severely reduced visual acuity (HP:0001141); Dyschromatopsia (HP:0007641); Abnormal Ishihara plate test (HP:0030586); Myopic astigmatism (HP:0500041); Temporal optic disc pallor (HP:0012511) Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal recessive Age/Examination 19y (19 years) Age/Diagnosis - 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 2023-01-25 16:52:05 +01:00 (CET) Date last edited 2023-01-27 19:34:20 +01:00 (CET)

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