| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Polymicrogyria (ADGRG1/GPR56) | Severe ID manifesting with global motor and developmental delay, ataxic gait, absent or delayed language, hypotonia, and aggressive behavior. | Autosomal Recessive | 16q21 | Nonsense | ADGRG1 | c.1423C > T | p.Arg476* | Premature Termination | Paracha et al. 2024/2024 |
