Male
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_173076.3:c.6852G>C | 1 | |||
| NM_173076.3:c.2785C>T | 1 | |||
| NM_173076.2:c.335del | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 601277.1.1 | United Arab Emirates | Thickened skin; Scaling skin; Bilateral single transverse palmar creases; Small epiphyses of the toes | Male | Yes | No | The patient had two paternal aunts with a history of skin dryness |
| 601277.1.3 | United Arab Emirates | Male | Father of 601777.1.1 | |||
| 601277.1.4 | United Arab Emirates | Female | Yes | Mother of 601277.1.1 |