Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_130468.4:c.54_78del | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 601776.1.2 | Saudi Arabia | Intellectual disability; Hearing impairment; Ectrodactyly; Joint laxity | Male | Yes | Yes | Relative of 601776.1.1 |