Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_014738.5:c.810del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 618316.2.1 | Qatar | Neonatal respiratory distress; Patent foramen ovale; Generalized myoclonic-tonic-clonic seizure; Appendicular hypotonia; Axial hypotonia; Abnormal facial shape; Hyperintensity of cerebral white matter on MRI | Male | Yes | Yes | |
| 618316.2.2 | Qatar | Neonatal respiratory distress; Abnormal facial shape; Generalized hypotonia; Delayed speech and language development; Specific learning disability | Female | Yes | Yes | Sibling of 618316.2.1 |