Female
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_153240.5:c.2694-2_2694-1del | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
208540.1 | Saudi Arabia | Abnormality of the kidney; Multiple renal cysts; Hepatic cysts; Pulmonary hypoplasia | Male | No | No | |
208540.2 | Saudi Arabia | Moderate to late preterm birth; Intrauterine growth retardation; Ventricular septal defect; Polycystic kidney dysplasia; Pulmonary hypoplasia | Female |