| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Muscular D-dystroglycanopathy type A7(MDDGA7,ISPD) | LGMD,CMD with cerebral & ocular | Autosomal Recessive | 7p21.2 | Missense | ISPD | 367G>A | Gly123Arg | Amino Acid Substitution | 0/Baranello et al., 2015 |
