Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_198309.3:c.459G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615985.1.1 | Arab | Rod-cone dystrophy; Hand polydactyly; Foot polydactyly; Cognitive impairment; Micropenis | Male | Yes | Yes | North African. Proband. Patient exhibited an additional heterozygous mutation in the BBS7 gene. |
| 615985.1.2 | Arab | Rod-cone dystrophy; Hand polydactyly; Foot polydactyly; Hydrometrocolpos; Renal insufficiency | Female | Yes | Yes | Sister of patient 615985.1.1. She exhibited features similar to McKusick–Kauffmann syndrome. |
| 615985.1.4 | Arab | Female | No | Mother of patient 615985.1.1. | ||
| 615985.1.5 | Arab | Male | No | Father of patient 615985.1.1. |