Male
Yes
No
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_015160.3:c.1129G>A | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
213200.2.2 | Lebanon | Dysarthria ; Dysmetria ; Gait ataxia ; Gaze-evoked nystagmus | Male | Yes | No | Brother of 213200.2.1 |