| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Neurodevelopmental disorder (NCDN) | Neurodevelopmental delay, intellectual disability, and epilepsy | Autosomal Recessive | 1p34.3 | Substitution | NCDN | c.1297G>C | p.Glu433Gln | Missense | Fatima et al., 2021/2021 |
