This 39 year old woman first experienced poor night vision when she was about 4 years old. She began to experience some abnormalities with her gate in her early 20's.
Age at visit: 29 years |
Age at visit: 34 years |
Age at visit: 36 years |
Age at visit: 39 years |
Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
---|---|---|---|---|
Posterior Column Ataxia with Retinitis Pigmentosa | FLVCR1 | Asn121Asp AAC>GAC | Asn121Asp AAC>GAC | AR |