Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_032801.4:c.612+1G>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613730.1.2 | United Arab Emirates | Cerebral hemorrhage; Developmental cataract; Cystic renal dysplasia; Hepatomegaly; Neonatal death | Female | Yes | Yes | Sister of 613730.1.1 She also had 'Short rib polydactyly, type 3' |
| 613730.1.3 | United Arab Emirates | Cerebral hemorrhage; Seizure; Developmental cataract; Microphthalmia; Micropenis; Cryptorchidism | Male | Yes | Yes | Brother of 613730.1.1 |
| 613730.1.4 | United Arab Emirates | Cerebral hemorrhage; Seizure; Developmental cataract; Systolic heart murmur; Hepatomegaly; Thrombocytopenia | Female | Yes | Yes | Relative of 613730.1.1 |
| 613730.1.5 | United Arab Emirates | Cerebral hemorrhage; Developmental cataract; Optic disc pallor; Ectopic kidney; Death in infancy | Male | Yes | Yes | Relative of 613730.1.1 |
| 613730.1.6 | United Arab Emirates | Cerebral hemorrhage; Seizure; Developmental cataract; Ectopic kidney | Female | Yes | Yes | Relative of 613730.1.1 |
| 613730.1.G.1 | United Arab Emirates | Group of 6 parents from a large consanguineous Emirati family (the parents of 613730.1.1, 613730.1.2 and 613730.1.3; the parents of 613730.1.4; and the parents of 613730.1.5 and 613730.1.6). |