| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Neuromuscular disorder, NMD (DCAF13) | Affected peripheral nervous system, neuromuscular junction, or skeletal muscle | Autosomal Recessive | 8q22.3 | Substitution | DCAF13 | c.907 G > A | Asp303Asn | Missense | Manzoor et al., 2023/2023 |
| Neuromuscular disorder, NMD (DCAF13) | Affected peripheral nervous system, neuromuscular junction, or skeletal muscle | Autosomal Recessive | 8q22.3 | Substitution | DCAF13 | c.1363 G > A | Asp455Asn | Missense | Manzoor et al., 2023/2023 |
