Case
SR370
Student Mode
Type 1 Usher Syndrome (IB1a)
Male
Male
Hidden
SR370
Student Mode
Type 1 Usher Syndrome (IB1a)
Male
Male
History
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.
Pedigree
| Age at visit: 14 years |
| Age at visit: 16 years |
| Age at visit: 17 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Type 1 Usher Syndrome | USH1G | Leu84Pro CTG>CCG | Leu84Pro CTG>CCG | AR |
Disease:
Gene:
Allele 1:
Leu84Pro CTG>CCG
Allele 2:
Leu84Pro CTG>CCG
Inheritance:
AR