| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability (GFM1) | Developmental delay, dystonia, polymicrogyria, and severe intellectual disability | Autosomal Recessive | 3q25.32 | Substitution | GFM1 | c.409G>A | p.Val137Met | Missense | Khan et al., 2022/2022 |
| Intellectual Disability (GFM1) | Developmental delay, dystonia, polymicrogyria, and severe intellectual disability | Autosomal Recessive | 3q25.32 | Substitution | GFM1 | c.1880G>A | p.Arg627Gln | Missense | Khan et al., 2022/2022 |
