Phenotype #0000230313

Individual ID 00303229
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details nystagmus; photophobia; no night blindness; visual acuity (RE) 20/250, visual acuity (LE) 20/320, refractive error (RE) -2 (1.75) 90°, refractive error (LE) -1; ERG electronegativity; optic disc pallor; no peripheral pigmentary migration, greyish retina; retinal thinning at the expense of inner retina; optic nerve dysversion; MRI brain normal; insulin-dependent diabetes mellitus; hyperglycemia: 1.26 g/L
Inheritance Familial, autosomal recessive
Age/Examination 33y (33 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
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 2020-06-08 17:02:49 +02:00 (CEST)
Date last edited N/A

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