Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000343287 Individual ID 00454650 Associated disease mitochondrial Diagnosis/Initial slowly progressive mitochondrial disease Diagnosis/Definite - Phenotype details see papr; ..., cerebellar ataxia, optic atrophy, hypoacusis, peripheral neuropathy, intellectual disability Inheritance Familial, X-linked recessive Age/Examination 39y (39 years) Age/Diagnosis - Age/Onset 01y 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 2024-09-23 13:17:09 +02:00 (CEST) Date last edited N/A

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