| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Neurologic developmental disorder (CNTNAP1 ) | Abnormal development alongwith central nervous system (CNS) and peripheral nervous system (PNS) abnormalities | Autosomal Recessive | 17q21.2 | Substitution | CNTNAP1 | c.333G>C | p.(Trp111Cys) | Missense | Khan et al. 2023/2023 |
