| Individual ID |
00436506 |
| Associated disease |
USH2A |
| Phenotype details |
Reduced visual acuity HP:0007663, Nyctalopia HP:0000662, Peripheral visual field loss HP:0007994, Retinitis pigmentosa HP:0000510, Moderate sensorineural hearing impairment HP:0008504 |
| Diagnosis/Initial |
Usher syndrome |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
# 276901 |
| Age/Examination |
15y (15 years) |
| Age/Diagnosis |
25y |
| Age/Onset |
12y |
| Phenotype/Onset |
12y |
| Protein |
- |
| Owner name |
Rocio Villafuerte-de la Cruz |
| Database submission license |
Creative Commons Attribution-ShareAlike 4.0 International |
| Created by |
Rocio Villafuerte-de la Cruz |
| Date created |
2023-09-20 05:12:25 +02:00 (CEST) |
| Date last edited |
2023-09-20 09:31:01 +02:00 (CEST) |