Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001350748.2:c.321G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615419.8.1 | Saudi Arabia | Neurodevelopmental delay; Generalized hypotonia; Dystonia; Microcephaly; Scoliosis; Encephalopathy | Female | Yes | Yes |