Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_016464.5:c.128+5G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 614465.9.1 | United Arab Emirates | Persistent open anterior fontanelle; Nystagmus; Esotropia; Generalized hypotonia; Molar tooth sign on MRI; Cerebellar atrophy | Male | Yes | Yes | Has a similarly affected sister |
| 614465.9.2 | United Arab Emirates | Male | Father of 614465.9.1 |