SR2654
Type 2 Usher Syndrome (IB1b)
Male
Male
SR2654
Type 2 Usher Syndrome (IB1b)
Male
Male
Pedigree
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Type 2 Usher Syndrome | USH2A | Trp3521Arg TGG>CGG | Lys4077 del2aaAG | AR |
Disease:
Gene:
Allele 1:
Trp3521Arg TGG>CGG
Allele 2:
Lys4077 del2aaAG
Inheritance:
AR