| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Seckel Syndrome 1 (SCKL1, ATR) | Microcephaly, MR, Dwarfism, growth prob | Autosomal Recessive | 3q23 | - | ATR | - | - | - | Goodship et al., 2000/2000 |
| Seckel Syndrome 1 (SCKL1, ATR) | Microcephaly,MR,Dwarfism,growth probl | Autosomal Recessive | 3q23 | Splice site | ATR | 2101A>G | ODriscoll et al., 2003/2003 |
