| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Ataxia-Telangiectasia?Like Syndrome (AT) | Ataxia, oculomotor apraxia, choreoathetosis | Autosomal Recessive | 9q34 | - | - | - | - | - | N?meth ET AL., 2000/2000 |
