This 29 year old woman became lost on a nighttime Girl Scout hike at age 12. Her visual acuity worsened around age 21. She reports post axial polydactyly of both hands and one foot.
Age at visit: 29 years |
OD | |||
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Age at visit: 36 years |
OD | OS | ||
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OD | OS | ||
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Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
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Bardet Biedl Syndrome | BBS1 | Met390Arg ATG>AGG | Met390Arg ATG>AGG | AR |