274600.1.01 | Palestine | 2 | | Pathogenic | Pendred Syndrome | Walsh et al. 2006 | |
274600.1.02 | Palestine | 2 | | Pathogenic | Pendred Syndrome | Walsh et al. 2006 | Brother of 274600.1.01 |
274600.1.03 | Palestine | 2 | | Pathogenic | Pendred Syndrome | Walsh et al. 2006 | Brother of 274600.1.01 |
274600.1.04 | Palestine | 2 | | Pathogenic | Pendred Syndrome | Walsh et al. 2006 | First cousin, once-removed, of 274600.1.... |
274600.1.05 | Palestine | 1 | | Pathogenic | | Walsh et al. 2006 | Father of 274600.1.01 |
274600.1.06 | Palestine | 1 | | Pathogenic | | Walsh et al. 2006 | Mother of 274600.1.01 |
274600.1.07 | Palestine | 1 | | Pathogenic | | Walsh et al. 2006 | Maternal aunt of 274600.1.01 |
274600.1.08 | Palestine | 1 | | Pathogenic | | Walsh et al. 2006 | Maternal uncle of 274600.1.01 |
274600.1.09 | Palestine | 1 | | Pathogenic | | Walsh et al. 2006 | Great aunt of 274600.1.01, Mother of 274... |
274600.1.10 | Palestine | 1 | | Pathogenic | | Walsh et al. 2006 | Great uncle of 274600.1.01, Father of 27... |
274600.1.11 | Palestine | 1 | | Pathogenic | | Walsh et al. 2006 | Maternal grandmother of 274600.1.01 |
600791.2.1 | United Arab Emirates | 2 | | Likely Pathogenic | Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct | Chouchen et al. 2021 | Proband |
600791.2.2 | United Arab Emirates | 2 | | Likely Pathogenic | Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct | Chouchen et al. 2021 | Sibling of proband |
600791.2.3 | United Arab Emirates | 2 | | Likely Pathogenic | Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct | Chouchen et al. 2021 | Sibling of proband |
600791.2.4 | United Arab Emirates | 2 | | Likely Pathogenic | Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct | Chouchen et al. 2021 | Sibling of proband |
600791.2.5 | United Arab Emirates | 1 | | | | Chouchen et al. 2021 | Healthy sibling of proband |
600791.2.6 | United Arab Emirates | 1 | | | | Chouchen et al. 2021 | Healthy sibling of proband |
600791.2.7 | United Arab Emirates | 1 | | | | Chouchen et al. 2021 | Mother of proband |
600791.2.8 | United Arab Emirates | 1 | | | | Chouchen et al. 2021 | Father of proband |
600791.5 | Comoros | 2 | | Pathogenic | Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct | Ali et al. 2024 | Patient from 'family 2' in the publicati... |
600791.6.1 | United Arab Emirates | 2 | | Pathogenic | Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct | Ali et al. 2024 | Patient from 'family 3' in the publicati... |
600791.6.2 | United Arab Emirates | 2 | | Pathogenic | Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct | Ali et al. 2024 | Father of 600791.6.1 |