| Individual ID |
00151792 |
| Associated disease |
PHARC |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Initial |
sensory and motor neuropathy and ataxia |
| Age/Examination |
15y (15 years) |
| Diagnosis/Definite |
PHARC |
| Age/Diagnosis |
36y |
| Age/Onset |
15y |
| Phenotype/Onset |
28y |
| Phenotype details |
bilateral sensorineural deafness (HP 0008619), bilateral congenital cataract (HP 0000519) |
| Hearing/Loss |
progressive |
| Protein |
- |
| Owner name |
Justine Lerat |
| Database submission license |
No license selected |
| Created by |
Justine Lerat |
| Date created |
2018-01-21 18:42:50 +01:00 (CET) |
| Date last edited |
2018-01-25 09:43:27 +01:00 (CET) |