Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004525.3:c.9358_9359del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 222448.1.1 | Qatar | Congenital diaphragmatic hernia; Omphalocele; Hypertelorism; Abnormal corpus callosum morphology; Wide anterior fontanel; Hearing impairment | Female | Yes | Yes | Patient 'Pt 1' from kindred 6 in the publication |