| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Juvenile neuronal ceroid lipofuscinosis 3 (JNCL 3,CLN3) | Ceroid lipofuscinosis, neuronal, 3/Batten disease | Autosomal Recessive | 16p12.1 | Delation | CLN3 | c.181_183delGAC | p.Asp61del | Inframe delation | Sher et al., 2019/2019 |
