Case
SR566
Student Mode
Type 2 Usher Syndrome (IB1b)
Male
Male
Hidden
SR566
Student Mode
Type 2 Usher Syndrome (IB1b)
Male
Male
Highlighted Images
| Age at visit: 60 years | OD | OS |
|---|---|
Pedigree
| Age at visit: 56 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 58 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 60 years |
| OD | |||
|---|---|---|---|
| Age at visit: 61 years |
| OD | |||
|---|---|---|---|
| Age at visit: 65 years |
| Age at visit: 66 years |
| Age at visit: 68 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Type 2 Usher Syndrome | USH2A | Trp3955Stop TGG>TAG | Thr1099 del2acaAC | AR |
Disease:
Gene:
Allele 1:
Trp3955Stop TGG>TAG
Allele 2:
Thr1099 del2acaAC
Inheritance:
AR