Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001244189.2:c.230C>G | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 616546.1.1 | Lebanon | Hydrocephalus; Polydactyly; Cleft palate; | Yes | Yes | 15-week gestational age fetus | |
| 616546.1.2 | Lebanon | Hydrocephalus; Polydactyly; Cleft palate; Flared iliac wing; | Female | Yes | Yes | 15-week gestational age fetus; sibling of 616546.1.1 |
| 616546.1.4 | Lebanon | Male | Father of 616546.1.1 |