Phenotype #0000348653

Individual ID 00461153
Associated disease OPA
Phenotype details see paper; ..., congenital; fundus oculi (first visit) OD diffuse pale optic disc, ARV/OS diffuse pale optic disc, ARV; electrophysiology moderately reduced (rod/cone); wandering movement, bilateral nystagmus; developmental delay, hypotonia
Diagnosis/Initial optic atrophy
Inheritance Familial, autosomal dominant
Diagnosis/Definite -
Age/Examination 2y (2 years)
Age/Diagnosis -
Age/Onset infant
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 Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2025-01-31 10:20:27 +01:00 (CET)
Date last edited N/A

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