Female
No
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001134831.2:c.1922T>A | 1 | NA | ||
NM_015631.6:c.1437G>C | NA | NA |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
608629.4.2 | United Arab Emirates | Ataxia; Intellectual disability; Molar tooth sign on MRI | Male | No | Patient from 'JS_B' family in the publication |