This 33 year old man has had poor night vision since childhood and began to notice a constriction of his visual field in his teens. He remembers being in a health class in 6th grade and being unable to feel his own pulse when the other children were able to do so easily.
Age at visit: 28 years |
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Age at visit: 31 years |
Age at visit: 33 years |
Age at visit: 36 years |
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Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
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Posterior Column Ataxia with Retinitis Pigmentosa | FLVCR1 | Asn121Asp AAC>GAC | Asn121Asp AAC>GAC | AR |