Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001377.3:c.6035C>T | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613091.1 | Saudi Arabia | Intrauterine growth retardation; Narrow chest; Abnormal renal pelvis morphology | Female | Yes | Yes | |
| 613091.3 | Saudi Arabia | Short stature; Narrow chest; Short ribs | Male | Yes | ||
| 613091.4 | Saudi Arabia | Anal atresia; Perineal fistula; Ventricular septal defect; Atrial septal defect; Feeding difficulties | Female | Yes |