Global Variome shared LOVD

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Phenotype #0000346599 Individual ID 00458163 Associated disease NDD Diagnosis/Initial bilateral optic atrophy Diagnosis/Definite MMDS9B Phenotype details see paper; ..., 3.5y-optic atrophy; no hearing impairment; 15y-ataxia/balance problems; no sensory neuropathy; no motor neuropathy; no dizziness; no tremor; 3.5y-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; constricted visual field Inheritance Familial, autosomal recessive Age/Examination 10 Age/Diagnosis - Age/Onset 3.5y 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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