Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001379614.1:c.629C>T | 2 | NA |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
617532.1.1 | Palestine | Intellectual disability; Delayed speech and language development; Seizure; Obsessive-compulsive behavior; Downslanted palpebral fissures; Smooth philtrum; Thin upper lip vermilion; Patent ductus arteriosus | Female | Yes | Yes | Patient 'A.II-2' in the publication. |
617532.1.G | Palestine | Healthy relatives of 617532.1.1 (sister + parents). |