Global Variome shared LOVD

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

Phenotype #0000254743 Individual ID 00359493 Associated disease OPA1 Phenotype details - Diagnosis/Initial Optic atrophy Inheritance Familial, autosomal dominant Diagnosis/Definite Autosomal dominant optic atrophy Age/Examination 10y (10 years) Age/Diagnosis 10y Age/Onset - Phenotype/Onset Autosomal dominant optic atrophy Vision/Acuity OD 0.3 LogMAR Vision/Colour ? Vision/Field - Birth_Details - Eye/Optic_Disc - Eye/OCT OS RNFL two or more Brain/Imaging ? MotorSkills - Vision/Abnormality acuity reduced Hearing/Loss ? Protein - Owner name Xingyu Xu Database submission license No license selected Created by Xingyu Xu Date created 2021-03-22 21:30:48 +01:00 (CET) Date last edited 2021-03-23 08:25:02 +01:00 (CET)

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