Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_024685.4:c.728_731del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615987.2.01 | Oman | Nyctalopia; Visual impairment; Retinal vascular malformation; Abnormality of retinal pigmentation; Myopic astigmatism; Truncal obesity; Round face; Syndactyly; Brachydactyly; Intellectual disability, moderate; Recurrent urinary tract infections; Urinary incontinence | Female | Yes | Yes | Proband |
| 615987.2.02 | Oman | Nyctalopia; Retinal vascular malformation; Abnormality of retinal pigmentation; Astigmatism; Hypermetropia; Truncal obesity; Round face; Polydactyly; Syndactyly; Brachydactyly; Motor delay; Delayed speech and language development | Male | Yes | Yes | Relative of 615987.2.01 |
| 615987.2.03 | Oman | Nyctalopia; Visual impairment ; Retinal vascular malformation; Abnormality of retinal pigmentation; Myopic astigmatism; Truncal obesity; Round face; Syndactyly (Hands); Brachydactyly; Micropenis; Cryptorchidism; Motor delay; Delayed speech and language development | Male | Yes | Yes | Relative of 615987.2.01 |
| 615987.2.05 | Oman | Male | Yes | Yes | Unaffected father of 615987.2.01 | |
| 615987.2.06 | Oman | Female | Yes | Yes | Unaffected mother of 615987.2.01 | |
| 615987.2.07 | Oman | Male | Yes | Yes | Unaffected father of 615987.2.02 | |
| 615987.2.08 | Oman | Female | Yes | Yes | Unaffected mother of 615987.2.02 | |
| 615987.2.09 | Oman | Male | Yes | Yes | Unaffected father of 615987.2.03 and 615987.2.04 | |
| 615987.2.10 | Oman | Female | Yes | Yes | Unaffected mother of 615987.2.03 and 615987.2.04 |