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 |
---|---|---|---|---|---|---|
213200.3.2 | Lebanon | Intellectual disability ; Delayed speech and language development ; Delayed ability to walk ; Dysarthria ; Dysmetria ; Gait ataxia ; Gaze-evoked nystagmus | Female | Yes | Yes | Sister of 213200.3.1 |