Wolfram syndrome
| Disorder | |
|---|---|
| OMIM #: | #222300 (Click to access OMIM database) |
| Disorder: | Wolfram syndrome |
| Also known as: | |
| Clinical | |
| Phenotype: | neurodegeneration, diabetes mellitus, optic atrophy, retinitis pigmentosa, diabetes insipidus, deafness, renal abnormalities, ataxia, dementia, developmental delay, psychiatric illness, hypothyroidism |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | WFS1 |
| Base Change: | T>C, at nucleotide 2015 |
| Amino Acid Change: | |
| Last updated: | 2022-11-11 |
| References |
|---|
| Personal communication; seen at CSC. |
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