Male
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NC_000016.10:g.(?_90019633)_(90019768_?)del | 1 | |||
| NM_032119.4:c.1849G>A | 1 | |||
| NM_032119.4:c.6994A>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 616726.1.1 | United Arab Emirates | Ciliary dyskinesia; Decreased lacrimation; Retinopathy; Retinal dystrophy; Corneal scarring; Abnormal light- and dark-adapted electroretinogram; Keratoconjunctivitis sicca; Tinnitus; Gastroesophageal reflux; Blepharitis; Bronchiectasis; Recurrent sinopulmonary infections | Female | No | Proband. Disease attributed to homozygous GAS8 exon 1 deletion. Both ADGRV1 variants are on one allele. | |
| 616726.1.3 | United Arab Emirates | Female | No | Healthy mother of the proband. |