Phenotype #0000057313
| Individual ID |
00077538 |
| Associated disease |
CORD |
| Inheritance |
Unknown |
| Diagnosis/Initial |
- |
| Age/Examination |
- |
| Diagnosis/Definite |
- |
| Age/Diagnosis |
- |
| Age/Onset |
8y |
| Phenotype/Onset |
initial reports of blurred central vision without a history of night blindness |
| Phenotype details |
cone-rod dystrophy (HP:0000510); Poor visual acuity; impairment of color vision; funduscopic evidence of atrophic macular degeneration; peripheral disturbances including pigment clumping, pigment epithelial thinning, or both; and greater or earlier loss of cone rather than rod ERG amplitude. |
| Protein |
- |
| Owner name |
Stéphanie Cornelis |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Stéphanie Cornelis |
| Date created |
2016-02-22 12:22:09 +01:00 (CET) |
| Date last edited |
N/A |
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