Global Variome shared LOVD

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Phenotype #0000346600 Individual ID 00458164 Associated disease NDD Diagnosis/Initial bilateral optic atrophy Diagnosis/Definite MMDS9B Phenotype details see paper; ..., 42y-optic atrophy; 42y-hearing impairment; 42y-ataxia/balance problems; 42y-sensory neuropathy; 42y-motor neuropathy; no dizziness; no tremor; possible no retinal dystrophy; no macula edema; no retinal vessels attenuation; no cataract; no nystagmus; no squint Inheritance Familial, autosomal recessive Age/Examination 42y (42 years) Age/Diagnosis - Age/Onset 42y 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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