Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_014797.2:c.396_397del | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 614069.1.1 | Lebanon | Global developmental delay; Intellectual disability; Cough; Rhinitis; High palate; Short chin; Retrognathia; Everted lower lip vermilion; Protuberant abdomen | Male | Yes | No | Brother of 614069.1.2 & 614069.1.3 (On karyotyping, 30-40% of the cells showed whole-arm deletions, pericentromic breaks, and multibranching in chromosome 1, 6, and 9). |
| 614069.1.2 | Lebanon | Global developmental delay; Intellectual disability; Cough; Rhinitis; High palate; Short chin; Retrognathia; Everted lower lip vermilion | Male | Yes | No | Brother of 614069.1.1 & 614069.1.3 (On karyotyping, 30-40% of the cells showed whole-arm deletions, pericentromic breaks, and multibranching in chromosome 1, 6, and 9). |
| 614069.1.3 | Lebanon | Global developmental delay; Intellectual disability; Cough; Rhinitis; High palate; Short chin; Retrognathia; Everted lower lip vermilion | Male | Yes | No | Brother of 614069.1.1 & 614069.1.2 (On karyotyping, 30-40% of the cells showed whole-arm deletions, pericentromic breaks, and multibranching in chromosome 1, 6, and 9). |
| 614069.1.4 | Lebanon | Male | Yes | No | Father of 614069.1.1, 614069.1.2 & 614069.1.3 |