Phenotype #0000295189

Individual ID 00402425
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: 12, grade: severe, sub-RPE illumination 5 mm circle area (mm2): 3.6, sub-RPE illumination fovea distance (mm): 0.9, focal ERG (uV): 0.29, submicrovolt 30 Hz (uV):
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite Usher syndrome type 2A
Age/Examination 48y (48 years)
Age/Diagnosis -
Age/Onset 28y
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-02-06 13:32:32 +01:00 (CET)
Date last edited N/A

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