Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000048.4:c.332G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 207900.14 | United Arab Emirates | Global developmental delay; Abnormal heart morphology; Gastroesophageal reflux | Male | No | Yes | |
| 207900.16 | United Arab Emirates | Failure to thrive; Motor delay; Delayed speech and language development; Intellectual disability; Specific learning disability; Hypotonia | Male | Yes | Brother with cerebellar hypoplasia |