Male
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001139.3:c.1294C>T | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
242100.1.1 | Lebanon | Congenital nonbullous ichthyosiform erythroderma; Ectropion | Male | Yes |