Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000048.4:c.1135C>G | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 207900.14 | Saudi Arabia | Global developmental delay; Abnormal heart morphology; Gastroesophageal reflux | Male | No | Yes | |
| 207900.15 | Saudi Arabia | Seizure precipitated by febrile infection; Specific learning disability; Short stature | Female | Yes | Yes | Similarly affected siblings |