Male
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_173076.2:c.2486dup | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 242500.1.1 | United Arab Emirates | Scaling skin; Erythroderma; Eclabion; Ectropion; Inguinal hernia; Retractile testis; Recurrent skin infections | Male | No | Yes | |
| 242500.1.3 | United Arab Emirates | Female | No | Mother of 242500.1.1 |