SR199
Type 1 Usher Syndrome (IB1a)
Male
Male
SR199
Type 1 Usher Syndrome (IB1a)
Male
Male
History
This 17 year old boy had congenital hearing loss and received a cochlear implant in his 1st year of life. He did not walk until 19 months of age.
Pedigree
| 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 | CDH23 | Arg1751Gln CGG>CAG | Arg1751Gln CGG>CAG | AR |
Disease:
Gene:
Allele 1:
Arg1751Gln CGG>CAG
Allele 2:
Arg1751Gln CGG>CAG
Inheritance:
AR