Male
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001032382.2:c.459_462del | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 309500.2 | United Arab Emirates | Hypoplasia of the corpus callosum; Hypoplasia of the pons; Round face; Hypertelorism; Wide nasal bridge; Bulbous nose; Full cheeks; Long philtrum; Thin vermilion border; Microphallus; Cryptorchidism | Male | No | No |