Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_015884.3:c.1499G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 308205.2.1 | Syria | Generalized keratosis follicularis; Alopecia; Photophobia; Corneal ulceration | Male | Yes |