Female
Yes
Yes
| 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 |
|---|---|---|---|---|---|---|
| 213200.3.1 | Lebanon | Intellectual disability ; Delayed speech and language development ; Delayed ability to walk ; Dysarthria ; Dysmetria ; Gait ataxia ; Gaze-evoked nystagmus | Female | Yes | Yes |