Phenotype #0000302615
Individual ID |
00410511 |
Associated disease |
- |
Phenotype details |
decade of life: 40s; presenting symptoms (duration of symptoms, years): central visual loss (41y); visual acuity, logMAR: 1.6, 1.4; severity of phenotype: severe panretinal dystrophy; other ophthalmic features: myopia; nystagmus; posterior subcapsular lens opacity in both eyes |
Diagnosis/Initial |
- |
Inheritance |
Familial, autosomal recessive |
Diagnosis/Definite |
cone-rod dystrophy |
Age/Examination |
6y (6 years) |
Age/Diagnosis |
- |
Age/Onset |
- |
Phenotype/Onset |
- |
Protein |
- |
Owner name |
LOVD |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Anna Tracewska |
Date created |
2022-05-27 19:56:51 +02:00 (CEST) |
Date last edited |
N/A |
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