| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Ectodermal Dysplasia Type 9 (ECTD9, HOXC13) | hair and Nail dysplasia | Autosomal Recessive | 12q13.13 | Missense | HOXC13 | 929A?>?C | Asn310Thr | Amino Acid Substitution | 0/Khan et al., 2017 |
| Ectodermal Dysplasia Type 9 (ECTD9, HOXC13) | hair and Nail dysplasia | Autosomal Recessive | 12q13.13 | Nonsense | HOXC13 | 265C>T | Gln89* | PTC | 0/Mehmood et al., 2017 |
