Case
SR1931
Student Mode
Best Disease (IIB)
Male
Male
Hidden
SR1931
Student Mode
Best Disease (IIB)
Male
Male
Highlighted Images
| Age at visit: 23 years | |
| OD | OS |
|---|---|
Pedigree
| Age at visit: 8 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 9 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 14 years |
| Age at visit: 18 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 20 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 21 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 23 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 24 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 24 years (Visit 2) |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 24 years (Visit 3) |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 26 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 27 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 28 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 28 years (Visit 2) |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 29 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 30 years (Visit 2) |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 31 years |
| OD | OS | ||
|---|---|---|---|
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Best Disease | BEST1 | Asp302Ala GAT>GCT | AD |