Global Variome shared LOVD

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Phenotype #0000295186 Individual ID 00402422 Associated disease - Phenotype details scores 0-5 (0-2 mild, 3 moderate, 4 severe); best-corrected visual acuity loss: moderate, visual field loss: severe, ellipsoid zone loss: severe, cumulative score: 13, grade: severe, sub-RPE illumination 5 mm circle area (mm2): 0.3, sub-RPE illumination fovea distance (mm): 1.6, focal ERG (uV): 0.26, submicrovolt 30 Hz (uV): Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Usher syndrome type 2A Age/Examination 49y (49 years) Age/Diagnosis - Age/Onset 30y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-02-06 13:32:32 +01:00 (CET) Date last edited N/A

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