Global Variome shared LOVD

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Phenotype #0000346593 Individual ID 00458157 Associated disease NDD Diagnosis/Initial bilateral optic atrophy Diagnosis/Definite MMDS9B Phenotype details see paper; ..., 14y-optic atrophy; Yes (late teens); ataxia/balance problems (late teens); sensory neuropathy (late teens); motor neuropathy (late teens); no dizziness; no tremor; 14y-no retinal dystrophy; no macula edema; 1yy-retinal vessels attenuation; no cataract; no nystagmus; no squint; latest best corrected visual acuity 0.06 and 0.1; constricted visual field; no nyctalopia Inheritance Familial, autosomal recessive Age/Examination 14y (14 years) Age/Diagnosis - Age/Onset 14y Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-12-03 16:21:33 +01:00 (CET) Date last edited N/A

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