Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_138425.4:c.1A>G | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 218340.1.1 | United Arab Emirates | Abnormal facial shape; Hypotonia; Intellectual disability; Autistic behavior | Female | Yes | Yes | Proband. Parents are first-cousins |
| 218340.1.3 | United Arab Emirates | Abnormal facial shape; Hypotonia; Intellectual disability; Autistic behavior; Seizure; EEG Abnormality; Hypoplasia of the corpus callosum; Abnormal thalamic size; Ventriculomegaly; Abnormal cerebral white matter morphology; Abnormality of the septum pellucidum; Hypoplastic anterior commissure | Female | Yes | Yes | Sister of proband. |
| 218340.1.4 | United Arab Emirates | Female | No | Healthy mother of proband. | ||
| 218340.1.5 | United Arab Emirates | Male | No | Healthy father of proband. |