Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000046.5:c.1079T>C | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 253200.2 | Saudi Arabia | Dandy-Walker malformation; Hydrocephalus; Kyphosis; Strabismus; Hypermetropia; Abnormality of the male genitalia; Abnormal facial shape; Genu valgum; Pectus carinatum; Systolic heart murmur | Male | Yes |