| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Ectodermal dysplasia syndactyly syndrome 1 (NECTIN4) | Sparse hair, hypoplastic nails with thick flat discolored nail plates, peg-shaped, conical, and widely spaced teeth with enamel hypoplasia, proximal cutaneous syndactyly of fingers and toes | Autosomal Recessive | 1q23.3 | Substitution | NECTIN4 | c.163C>T | p.(Arg55*) | Nonsense | Hajra et al., 2023/2023 |
