| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Neurodevelopmental disorder (ARHGEF17) | Intellectual disability, speech delay and motor dysfunction | Autosomal Recessive | 11q13.4 | Substitution | ARHGEF17 | c.1624C>T | p.R542W | Missense | Ravindran et al., 2022 /2022 |
