Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_176824.3:c.602-2A>T | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
615984.3.1 | Saudi Arabia | Obesity; Intellectual disability; Chronic kidney disease; Sectoral retinitis pigmentosa; Polydactyly; Abnormal facial shape | Female | Yes | Yes |