Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_147127.5:c.2012_2015delTAAT | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
225500.2.2 | Lebanon | Short stature; Polydactyly; Nail dysplasia; Small, conical teeth; ; | Male | Yes | Yes | First cousin of 225500.2.1 |