Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_020223.4:c.1225C>T | 2 | NA |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
259775.3 | Saudi Arabia | Intrauterine growth retardation; Premature birth following premature rupture of fetal membranes; Extremely preterm birth; Abnormal facial shape; Neonatal respiratory distress; Neonatal death | Female | Yes | Yes | Mother has history of two previous deliveries with neonatal anomalies. |