Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001161.5:c.34C>T | 10 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
619844.G.1 | Saudi Arabia | Intellectual disability; Hypotonia; Unsteady gait; Abnormal globus pallidus morphology | Female | Yes | Yes | Two sisters |