Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_024685.3:c.1736A>G | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
615987.7.2 | Saudi Arabia | Obesity; Intellectual disability; Sectoral retinitis pigmentosa; Polydactyly; Hearing impairment; Abnormal facial shape; Abnormal left ventricle morphology; Abnormality of the genital system | Male | Yes | Yes | Sibling of 615987.7.1 |