BBS3 is a rare autosomal recessive disorder characterized by retinal dystrophy, polydactyly, renal structural abnormalities, and history of obesity. [From OMIM]
Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Aotosomal recessive
3q11.2
BBS3 is a rare autosomal recessive disorder characterized by retinal dystrophy, polydactyly, renal structural abnormalities, and history of obesity. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 600151.1.1 | Lebanon | Male | Yes | Yes | Rod-cone dystrophy; Truncal obesity; ... Rod-cone dystrophy; Truncal obesity; Global developmental delay; Hypodontia; Cataract; Brachydactyly; Syndactyly; Clinodactyly; Hepatic fibrosis; Postural instability  | NM_032146.5:c.68T>C | Homozygous | Autosomal, Recessive | Jaffal et al, 2019b | |
| 600151.1.2 | Lebanon | Female | Yes | Yes | Rod-cone dystrophy; Truncal obesity; ... Rod-cone dystrophy; Truncal obesity; Global developmental delay; Polydactyly; Astigmatism; Brachydactyly; Syndactyly; Clinodactyly; Postural instability | NM_032146.5:c.68T>C | Homozygous | Autosomal, Recessive | Jaffal et al, 2019b | Sister of 600151.1.1 |
| 600151.2.1 | Saudi Arabia | Male | Yes | Yes | Obesity; Rod-cone dystrophy; Polydactyly... Obesity; Rod-cone dystrophy; Polydactyly; Round face | NM_001278293.3:c.431C>T | Heterozygous, Homozygous | Autosomal, Recessive | Abu-Safieh et al. 2012; Abu Safieh et al. 2010 | "BBS-F003-A" in the ... |
| 600151.2.2 | Saudi Arabia | Female | Yes | Yes | Obesity; Rod-cone dystrophy; Polydactyly... Obesity; Rod-cone dystrophy; Polydactyly; Round face | NM_001278293.3:c.431C>T | Homozygous | Autosomal, Recessive | Abu-Safieh et al. 2012; Abu Safieh et al. 2010 | Sibling of 600151.2.... |
| 600151.2.3 | Saudi Arabia | Male | Yes | Yes | Obesity; Rod-cone dystrophy; Hearing imp... Obesity; Rod-cone dystrophy; Hearing impairment; Round face; Hepatic steatosis | NM_001278293.3:c.431C>T | Homozygous | Autosomal, Recessive | Abu-Safieh et al. 2012; Abu Safieh et al. 2010 | Sibling of 600151.2.... |
| 600151.2.4 | Saudi Arabia | Female | Yes | Yes | Obesity; Rod-cone dystrophy; Polydactyly... Obesity; Rod-cone dystrophy; Polydactyly; Round face | NM_001278293.3:c.431C>T | Heterozygous, Homozygous | Autosomal, Recessive | Abu-Safieh et al. 2012; Abu Safieh et al. 2010 | Sibling of 600151.2.... |
| 600151.2.5 | Saudi Arabia | Female | Yes | Yes | Obesity; Rod-cone dystrophy; Polydactyly... Obesity; Rod-cone dystrophy; Polydactyly; Round face | NM_001278293.3:c.431C>T | Homozygous | Autosomal, Recessive | Abu-Safieh et al. 2012; Abu Safieh et al. 2010 | Sibling of 600151.2.... |
| 600151.3.1 | Saudi Arabia | Male | Yes | Yes | Obesity; Specific learning disability; R... Obesity; Specific learning disability; Rod-cone dystrophy; Polydactyly; Round face; External genital hypoplasia | NM_001278293.3:c.480-1700_535+2392del | Homozygous | Autosomal, Recessive | Abu-Safieh et al. 2012; Abu Safieh et al. 2010 | "BBS-F004-A" in the ... |
| 600151.3.2 | Saudi Arabia | Female | Yes | Yes | Obesity; Specific learning disability; R... Obesity; Specific learning disability; Rod-cone dystrophy; Round face | NM_001278293.3:c.480-1700_535+2392del | Homozygous | Autosomal, Recessive | Abu-Safieh et al. 2012; Abu Safieh et al. 2010 | Sibling of 600151.3.... |
| 600151.3.3 | Saudi Arabia | Female | Yes | Yes | Obesity; Specific learning disability; R... Obesity; Specific learning disability; Rod-cone dystrophy; Polydactyly; Round face | NM_001278293.3:c.480-1700_535+2392del | Homozygous | Autosomal, Recessive | Abu-Safieh et al. 2012; Abu Safieh et al. 2010 | Sibling of 600151.3.... |
| 600151.3.4 | Saudi Arabia | Female | Yes | Yes | Obesity; Specific learning disability; R... Obesity; Specific learning disability; Rod-cone dystrophy; Polydactyly; Round face | NM_001278293.3:c.480-1700_535+2392del | Homozygous | Autosomal, Recessive | Abu-Safieh et al. 2012; Abu Safieh et al. 2010 | Sibling of 600151.3.... |
| 600151.3.5 | Saudi Arabia | Female | Yes | Yes | Obesity; Specific learning disability; R... Obesity; Specific learning disability; Rod-cone dystrophy; Polydactyly; Round face | NM_001278293.3:c.480-1700_535+2392del | Homozygous | Autosomal, Recessive | Abu-Safieh et al. 2012; Abu Safieh et al. 2010 | Sibling of 600151.3.... |
| 600151.4.1 | Saudi Arabia | Male | Yes | Yes | Obesity; Rod-cone dystrophy; Polydactyly... Obesity; Rod-cone dystrophy; Polydactyly; Round face; External genital hypoplasia | NM_001278293.3:c.480-1700_535+2392del | Heterozygous, Homozygous | Autosomal, Recessive | Abu-Safieh et al. 2012; Abu Safieh et al. 2010 | "BBS-F018-A" in the ... |
| 600151.4.2 | Saudi Arabia | Female | Yes | Yes | Obesity; Rod-cone dystrophy; Polydactyly... Obesity; Rod-cone dystrophy; Polydactyly; Round face | NM_001278293.3:c.480-1700_535+2392del | Homozygous | Autosomal, Recessive | Abu-Safieh et al. 2012; Abu Safieh et al. 2010 | Sibling of 600151.4.... |
| 600151.4.3 | Saudi Arabia | Female | Yes | Yes | Obesity; Rod-cone dystrophy; Polydactyly... Obesity; Rod-cone dystrophy; Polydactyly; Round face | NM_001278293.3:c.480-1700_535+2392del | Homozygous | Autosomal, Recessive | Abu-Safieh et al. 2012; Abu Safieh et al. 2010 | Sibling of 600151.4.... |