| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Neurologic developmental disorder (ADGRG1 ) | Abnormal development and central nervous system (CNS) and peripheral nervous system (PNS) abnormalities | Autosomal Recessive | 16q21 | Substitution | ADGRG1 | c.721C>T | p.(Gln241Ter) | Missense | Khan et al. 2023/2023 |
