Global Variome shared LOVD

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Phenotype #0000293242 Individual ID 00400202 Associated disease USH Diagnosis/Initial - Diagnosis/Definite Usher syndrome type 2 Phenotype details Onset age for nigh blindness: 12, deafness: moderate, no vestibular defect, best corrected visual acuity (right/left eye): 0.03/ 0.15, full-field electroretinogram: extinguished rod and cone, optical coherence tomography: almost absent photoreceptor inner segment ellipsoid band Inheritance Familial, autosomal recessive Age/Examination 47y (47 years) Age/Diagnosis - Age/Onset 12y Phenotype/Onset night blindness Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-01-25 14:55:33 +01:00 (CET) Date last edited N/A

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