Male
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_024685.4:c.931T>G | 1 | |||
| NM_024685.4:c.32T>G | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615987.1.02 | Lebanon | Deceased | Male | Yes | Yes | Relative of 615987.1.01 |
| 615987.1.03 | Lebanon | Rod-cone dystrophy; Cognitive impairment; Skin appendage neoplasm | Female | Yes | Yes | Sister of 615987.1.02, Relative of 615987.1.01 |
| 615987.1.04 | Lebanon | Rod-cone dystrophy; Hand polydactyly; Foot polydactyly; Cognitive impairment; Renal involvement; | Female | Yes | Yes | Sister of 615987.1.02, Relative of 615987.1.01 |
| 615987.1.05 | Lebanon | Deceased | Female | Yes | Yes | Sister of 615987.1.02, Relative of 615987.1.01 |
| 615987.1.06 | Lebanon | Rod-cone dystrophy; Foot polydactyly; Cognitive impairment; | Female | Yes | Yes | Relative of 615987.1.01 |
| 615987.1.07 | Lebanon | Rod-cone dystrophy; Increased body mass index; Hand polydactyly; Foot polydactyly; Cognitive impairment; | Male | Yes | Yes | Brother of 615987.1.06, Relative of 615987.1.01 |
| 615987.1.08 | Lebanon | Deceased | Male | Yes | No | Relative of 615987.1.01 |
| 615987.1.09 | Lebanon | Truncal obesity; Intellectual disability; Retinal degeneration; Polydactyly; Hypoplastic male external genitalia | Male | Yes | No | Brother of 615987.1.08, Relative of 615987.1.01 |
| 615987.1.10 | Lebanon | Truncal obesity; Retinal degeneration; Polydactyly; Intellectual disability; Hypoplastic male external genitalia | Male | Yes | No | Brother of 615987.1.08, Relative of 615987.1.01 |
| 615987.1.11 | Lebanon | Rod-cone dystrophy; Increased body mass index; Hand polydactyly; Foot polydactyly; Cognitive impairment; | Female | Yes | Yes | Relative of 615987.1.01 |
| 615987.1.12 | Lebanon | Rod-cone dystrophy; Increased body mass index; Hand polydactyly; Foot polydactyly; Cognitive impairment; | Female | Yes | Yes | Sister of 615987.1.11, Relative of 615987.1.01 |