Phenotype #0000230316

Individual ID 00303232
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details erratic ocular movement; photophobia; no night blindness; visual acuity (RE) 20/320, visual acuity (LE) 20/320, refractive error (RE) 6, refractive error (LE) 6; ERG electronegativity; optic disc pallor; no peripheral pigmentary migration; retinal thinning at the expense of inner retina; autistic features, stereotypies/obsessive-compulsive disorders; MRI brain normal; fasting blood glucose normal: 0.85 g/L
Inheritance Familial, autosomal recessive
Age/Examination 7y (7 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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