Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_006755.2:c.574C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 606003.1.2 | United Arab Emirates | Neutropenia; Hepatomegaly; Ichthyosis; Nystagmus; Secondary amenorrhea; | Female | Yes | Yes | Paternal aunt of 606003.1.1 |