Female
No
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NC_000015.10:g.22765628_28559402del | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 176270.1 | United Arab Emirates | Neonatal respiratory distress; Generalized hypotonia; Talipes equinovarus; Micropenis; Cryptorchidism; Global developmental delay; Abnormal facial shape | Male | No |