Female
No
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000199.3:c.1175del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 252900.2 | United Arab Emirates | Kyphosis; Myopia; Hearing Impairment; Frontal bossing; Coarse facial features | Female | Yes |