Case
SR94
Student Mode
Type 1 Usher Syndrome (IB1a)
Male
Male
Hidden
SR94
Student Mode
Type 1 Usher Syndrome (IB1a)
Male
Male
Highlighted Images
| Age at visit: 32 years | |
| OD | OS |
|---|---|
History
This 32 year old man had profound hearing loss discovered in the first year of life. He did not learn to walk until 15 months of age. Both of his parents grew-up in Louisiana and are both of Acadian heritage.
Pedigree
| Age at visit: 32 years |
| OD | OS | ||
|---|---|---|---|
| OD | |||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 35 years |
| OD | |||
|---|---|---|---|
| Age at visit: 36 years |
| Age at visit: 38 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Type 1 Usher Syndrome | USH1C | Val72Val GTG>GTA | Val72Val GTG>GTA | AR |
Disease:
Gene:
Allele 1:
Val72Val GTG>GTA
Allele 2:
Val72Val GTG>GTA
Inheritance:
AR