Phenotype #0000083597

Individual ID 00105701
Associated disease OPA
Phenotype details autosomal dominant optic atrophy plus; clinical info spans 41-50y; Ataxia, Cerebellar syndrome, Dysphagia, Ophthalmoplegia, Optic atrophy, Ptosis, Spastic paraplegia
Diagnosis/Initial optic atrophy
Inheritance Unknown
Diagnosis/Definite OPA+
Age/Examination 46y (46 years)
Age/Diagnosis -
Age/Onset 01y-05y
Phenotype/Onset -
Birth_Details -
MotorSkills wheelchair bound (disease duration >30y), upper limbs difficulty to write (disease duration >30y)
Vision/Abnormality -
Hearing/Loss -
Eye/Optic_Disc -
Protein -
Brain/Imaging atrophy
Eye/OCT -
Vision/Field -
Vision/Acuity -
Vision/Colour -
Habits -
Owner name Tobias Bonifert
Database submission license No license selected
Created by Tobias Bonifert
Date created 2013-08-20 16:22:40 +02:00 (CEST)
Date last edited 2018-11-16 15:40:50 +01:00 (CET)

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