Phenotype #0000295199
Individual ID |
00402435 |
Associated disease |
- |
Phenotype details |
scores 0-5 (0-2 mild, 3 moderate, 4 severe); best-corrected visual acuity loss: severe, visual field loss: moderate, ellipsoid zone loss: severe, cumulative score: 13, grade: severe, sub-RPE illumination 5 mm circle area (mm2): 2.8, sub-RPE illumination fovea distance (mm): 0.5, focal ERG (uV): 0.1, submicrovolt 30 Hz (uV): |
Diagnosis/Initial |
- |
Inheritance |
Familial, autosomal recessive |
Diagnosis/Definite |
Usher syndrome type 2A |
Age/Examination |
55y (55 years) |
Age/Diagnosis |
- |
Age/Onset |
22y |
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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