Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001286577.1:c.195G>C | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615948.2.1 | Palestine | Short long bone; Polydactyly; Renal cyst; Dandy-Walker malformation; Microphthalmia; Hypertelorism; Wide nasal bridge; Abnormality of the outer ear; Micrognathia; High palate; Brachydactyly | Female | Yes | No | 20 weeks old fetus |
| 615948.2.2 | Palestine | Short long bone; Polydactyly; Renal cyst; Dandy-Walker malformation; Abnormal facial shape; Atrial septal defect; Micropenis; Holoprosencephaly; Agenesis of cerebellar vermis; Cerebellar hypoplasia; Polymicrogyria; Hydrocephalus | Male | Yes | No | Brother of 615948.2.1. 15 weeks old fetus |
| 615948.2.4 | Palestine | Female | Yes | Mother of 615948.2.1 |