Case
SR2495
Student Mode
Usher Syndrome (IB1)
Female
Female
Hidden
SR2495
Student Mode
Usher Syndrome (IB1)
Female
Female
History
This 7 year old girl first exhibited difficulty seeing toys around her at age 2. She obtained glasses at that time, which helped somewhat, but her vision in dim light was very poor. At age 3 she failed a hearing exam and began wearing hearing aids.
Pedigree
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Usher Syndrome | TUBB4B | Arg391His CGC>CAC | AD |