Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000157.3:c.703T>C | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 608013.1.1 | Lebanon | Congenital nonbullous ichthyosiform erythroderma; Hepatosplenomegaly; Congenital thrombocytopenia; Neonatal death; | Male | Yes | No | |
| 608013.1.2 | Lebanon | Congenital nonbullous ichthyosiform erythroderma; Multiple joint contractures; Hepatosplenomegaly; Congenital thrombocytopenia; Neonatal death; ; | Male | Yes | No | Sibling of 608013.1.1 |