Phenotype #0000227556
| Individual ID |
00300255 |
| Associated disease |
- |
| Phenotype details |
normal physical development, normal body mass index, no symptoms of Sensenbrenner syndrome, no polydactyly, no short-rid, no micromelia, <5y night vision abnormalities; 42y-full field ERG responses undetectable to all stimulus conditions |
| Diagnosis/Initial |
retinitis pigmentosa |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
RP81 |
| Age/Examination |
42y (42 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2020-04-25 18:28:53 +02:00 (CEST) |
| Date last edited |
N/A |
|