Female
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 | |
| 613091.2 | Saudi Arabia | Pulmonary hypoplasia; Recurrent respiratory infections; Generalized hypotonia; Failure to thrive | Male | Yes | Yes | |
| 613091.3 | Saudi Arabia | Short stature; Narrow chest; Short ribs | Male | Yes |