Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_005221.6:c.533A>C | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 220600.1.2 | Yemen | Ectrodactyly; Abnormal nails; Hearing impairment | Female | Yes | Yes | Relative of 220600.1.1 |