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.
Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
---|---|---|---|---|
Usher Syndrome | TUBB4B | Arg391His CGC>CAC | AD |