Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_016145.4:c.156+1G>T | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
211600.3.1 | Saudi Arabia | Pruritus; Intellectual disability | Female | Yes | Yes | |
211600.3.3 | Saudi Arabia | Pruritus; Intellectual disability | Female | Yes | Yes | Sister of 211600.3.1 |