This 14 year old male has had poor vision in dim light for the past two years. He has had very poor hearing and some gate disturbances since a very early age. He lived in an orphanage outside the United States until age 12 and learned sign language there.
Age at visit: 14 years |
Age at visit: 16 years |
Age at visit: 17 years |
Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
---|---|---|---|---|
Type 1 Usher Syndrome | USH1G | Leu84Pro CTG>CCG | Leu84Pro CTG>CCG | AR |