Global Variome shared LOVD

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

Phenotype #0000156905 Individual ID 00103965 Associated disease OPA Phenotype details found in combination with truncating variant in OPA1 which explains phenotype (optic atrophy) in this patient Diagnosis/Initial optic atrophy Inheritance Unknown Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Birth_Details - MotorSkills - Vision/Abnormality - Hearing/Loss - Eye/Optic_Disc - Protein - Brain/Imaging - Eye/OCT - Vision/Field - Vision/Acuity - Vision/Colour - Habits - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2017-04-27 10:38:58 +02:00 (CEST) Date last edited N/A

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