Achromatopsia 2
| Disorder | |
|---|---|
| OMIM #: | #216900 (Click to access OMIM database) |
| Disorder: | Achromatopsia 2 |
| Also known as: | TOTAL COLORBLINDNESS ROD MONOCHROMATISM 2 ROD MONOCHROMACY 2 RMCH2 |
| Clinical | |
| Phenotype: | photophobia, decreased visual acuity, nystagmus, reduced or complete loss of colour discrimination, hyperopia |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | |
| Mutations | |
| 1 Old Order Mennonite | |
| Gene: | CNGA3 |
| Base Change: | G>A, at nucleotide 1126 |
| Amino Acid Change: | glu 376 --> lys |
| Last updated: | 2022-12-07 |
| References |
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