Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001379614.1:c.526C>T | 4 | NA |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
617532.2.1 | United Arab Emirates | Global developmental delay; Delayed speech and language development; Seizure; Unilateral renal agenesis; Triangular face; Downslanted palpebral fissures; Smooth philtrum; Thin upper lip vermilion | Male | Yes | Yes | Patient 'B.II-3' in the publication. |
617532.2.2 | United Arab Emirates | Failure to thrive; Global developmental delay; Coarctation of aorta; Triangular face; Hypertelorism; Smooth philtrum; Thin upper lip vermilion; Depressed nasal bridge; Facial hemangioma | Male | Yes | Yes | Patient 'B.II-4' in the publication. Brother of 617532.2.1 |