Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_021102.4:c.502G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613217.23.2 | Algeria | Intractable diarrhea; Punctate keratitis | Female | Yes | Yes | Relative of 613217.23.1 |