Unknown
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000521.4:c.272G>C | 2 | |||
| NM_022132.5:c.1015G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 268800.6 | United Arab Emirates | Developmental regression; Failure to thrive; Seizure; Feeding difficulties; Visual loss; | Unknown |