| 613730.1.1 | United Arab Emirates | 2 | | Likely Pathogenic | Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts | Mochida et al. 2010 | Patient belongs to a large Emirati famil... |
| 613730.1.2 | United Arab Emirates | 2 | | Likely Pathogenic | Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts | Mochida et al. 2010 | Sister of 613730.1.1
She also had 'Shor... |
| 613730.1.3 | United Arab Emirates | 2 | | Likely Pathogenic | Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts | Mochida et al. 2010 | Brother of 613730.1.1 |
| 613730.1.4 | United Arab Emirates | 2 | | Likely Pathogenic | Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts | Mochida et al. 2010 | Relative of 613730.1.1 |
| 613730.1.5 | United Arab Emirates | 2 | | Likely Pathogenic | Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts | Mochida et al. 2010 | Relative of 613730.1.1 |
| 613730.1.6 | United Arab Emirates | 2 | | Likely Pathogenic | Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts | Mochida et al. 2010 | Relative of 613730.1.1 |
| 613730.3 | United Arab Emirates | 2 | | Pathogenic | Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts | Bertoli-Avella et al. 2021 | |
| 613730.1.G.1 | United Arab Emirates | 6 | | | | Mochida et al. 2010 | Group of 6 parents from a large consangu... |
