Male
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_003593.2:c.562del | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
601705.1.1 | Lebanon | Erythroderma ; Alopecia ; Immunodeficiency ; Diarrhea | Female | Yes | Yes | Proband |
601705.1.3 | Lebanon | Female | Yes | Unaffected mother of 601705.1.1 |