Global Variome shared LOVD

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Phenotype #0000346596 Individual ID 00458160 Associated disease NDD Diagnosis/Initial bilateral optic atrophy Diagnosis/Definite MMDS9B Phenotype details see paper; ..., 40s-optic atrophy; 40s-hearing impairment; 40s-no ataxia/balance problems; 40s-sensory neuropathy; 40s-motor neuropathy; no dizziness; no tremor; no retinal dystrophy; no macula edema; no retinal vessels attenuation; no cataract; no nystagmus; no squint; latest best corrected visual acuity light perception 6/36 and 6/24; no constricted visual field; no nyctalopia Inheritance Familial, autosomal recessive Age/Examination 45y (45 years) Age/Diagnosis - Age/Onset 40y-49y 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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