Female
No
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001205254.1:c.981del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 251290.2 | United Arab Emirates | Dystonia; Basal ganglia calcification; Failure to thrive; Microcephaly; Global developmental delay; Seizure | Female | No | Yes |