Female
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_153704.6:c.2707G>C | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 610688.2 | Saudi Arabia | Global developmental delay; Generalized hypotonia; Nystagmus; Visual impairment | Male | Yes |