Phenotype #0000301657
Individual ID |
00409540 |
Associated disease |
BLM |
Phenotype details |
best corrected visual acuity: 0.4; electroretinogram , rod: severely reduced, cone: severely reduced |
Diagnosis/Initial |
- |
Inheritance |
Familial, autosomal recessive |
Diagnosis/Definite |
dystrophy, corneoretinal, crystalline, Bietti (BCD) |
Age/Examination |
58y (58 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 |
2022-05-10 12:05:14 +02:00 (CEST) |
Date last edited |
N/A |
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