Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000501.4:c.631C>T | 2 | |||
NM_006329.3:c.901C>A | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
219100.2.2 | Lebanon | Redundant skin; Abnormal facial shape | Male | Yes | Yes | Sibling of 219100.2.1 |
219100.2.3 | Lebanon | Female | Mother of 219100.2.1 | |||
219100.2.4 | Lebanon | Male | Father of 219100.2.1 |