| 613610.1.1 | Saudi Arabia | 2 | | Pathogenic | Intellectual Deficiency, Autosomal Recessive, Unclassified | Maddirevula et al. 2018; Maddirevula et al. 2020 | |
| 613610.1.2 | Saudi Arabia | 2 | | Pathogenic | Intellectual Deficiency, Autosomal Recessive, Unclassified | Maddirevula et al. 2018; Maddirevula et al. 2020 | Sister of 613610.1.1 |
| 613610.1.3 | Saudi Arabia | 1 | | | | Maddirevula et al. 2020 | Father of 613610.1.1 |
| 613610.1.4 | Saudi Arabia | 1 | | | | Maddirevula et al. 2020 | Mother of 613610.1.1 |
| 617342.1.1 | Saudi Arabia | 2 | | Pathogenic | Intellectual Deficiency, Autosomal Recessive, Unclassified | Maddirevula et al. 2020 | |
| 617342.1.2 | Saudi Arabia | 2 | | Pathogenic | Intellectual Deficiency, Autosomal Recessive, Unclassified | Maddirevula et al. 2020 | Brother of 617342.1.1 |
| 617342.1.3 | Saudi Arabia | 2 | | Pathogenic | Intellectual Deficiency, Autosomal Recessive, Unclassified | Maddirevula et al. 2020 | Brother of 617342.1.1 |
| 617342.1.4 | Saudi Arabia | 1 | | | | Maddirevula et al. 2020 | Father of 617342.1.1 |
| 617342.1.5 | Saudi Arabia | 1 | | | | Maddirevula et al. 2020 | Mother of 617342.1.1 |
| 617342.2.1 | Saudi Arabia | 2 | | Pathogenic | Intellectual Deficiency, Autosomal Recessive, Unclassified | Maddirevula et al. 2020 | |
| 617342.2.2 | Saudi Arabia | 2 | | Pathogenic | Intellectual Deficiency, Autosomal Recessive, Unclassified | Maddirevula et al. 2020 | Sister of 617342.2.1 |
| 620747.1.1 | Egypt | 2 | | Likely Pathogenic | Neurodevelopmental Disorder with Early-Onset Parkinsonism and Behavioral Abnormalities | Reuter et al. 2017 | Authors classified this gene variant as ... |
| 620747.1.2 | Egypt | 2 | | Likely Pathogenic | Neurodevelopmental Disorder with Early-Onset Parkinsonism and Behavioral Abnormalities | Reuter et al. 2017 | Relative of 620747.1.1 |
| 617342.2.G.1 | Saudi Arabia | 5 | | | | Maddirevula et al. 2020 | Father, mother and 3 brothers of 617342.... |
