Male
No
No
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 |
---|---|---|---|---|---|---|
208540.2 | Saudi Arabia | Moderate to late preterm birth; Intrauterine growth retardation; Ventricular septal defect; Polycystic kidney dysplasia; Pulmonary hypoplasia | Female | |||
208540.3 | Saudi Arabia | Polycystic kidney dysplasia; Pulmonary hypoplasia | Female | Yes |