Unknown
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_017755.6:c.1020del | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 611091.1.1 | United Arab Emirates | Neurodevelopmental delay; Cerebellar atrophy; Abnormal facial shape; Hyperactivity | Male | No | Yes |