BBS10 is characterized by progressive retinal dystrophy, obesity, polydactyly, cognitive impairment, and renal dysplasia. [From OMIM]
Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal recessive
12q21.2
BBS10 is characterized by progressive retinal dystrophy, obesity, polydactyly, cognitive impairment, and renal dysplasia. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 615987.1.01 | Lebanon | Male | Yes | No | Rod-cone dystrophy; Hand polydactyly... Rod-cone dystrophy; Hand polydactyly; Foot polydactyly  | NM_024685.4:c.931T>G, NM_024685.4:c.32T>G | Heterozygous | Autosomal, Recessive | Stoetzel et al. 2006; Laurier et al, 2006; Muller et al. 2010 | He belongs to the sa... |
| 615987.1.02 | Lebanon | Male | Yes | Yes | Deceased Deceased | NM_024685.4:c.931T>G | Homozygous | Autosomal, Recessive | Stoetzel et al. 2006; Laurier et al, 2006; Muller et al. 2010 | Relative of 615987.1... |
| 615987.1.03 | Lebanon | Female | Yes | Yes | Rod-cone dystrophy; Cognitive impair... Rod-cone dystrophy; Cognitive impairment; Skin appendage neoplasm | NM_024685.4:c.931T>G | Homozygous | Autosomal, Recessive | Stoetzel et al. 2006; Laurier et al, 2006; Muller et al. 2010 | Sister of 615987.1.0... |
| 615987.1.04 | Lebanon | Female | Yes | Yes | Rod-cone dystrophy; Hand polydactyly; ... Rod-cone dystrophy; Hand polydactyly; Foot polydactyly; Cognitive impairment; Renal involvement; | NM_024685.4:c.931T>G | Homozygous | Autosomal, Recessive | Stoetzel et al. 2006; Laurier et al, 2006; Muller et al. 2010 | Sister of 615987.1.0... |
| 615987.1.05 | Lebanon | Female | Yes | Yes | Deceased Deceased | NM_024685.4:c.931T>G | Homozygous | Autosomal, Recessive | Stoetzel et al. 2006; Laurier et al, 2006; Muller et al. 2010 | Sister of 615987.1.0... |
| 615987.1.06 | Lebanon | Female | Yes | Yes | Rod-cone dystrophy; Foot polydactyly... Rod-cone dystrophy; Foot polydactyly; Cognitive impairment; | NM_024685.4:c.931T>G | Homozygous | Autosomal, Recessive | Stoetzel et al. 2006; Laurier et al, 2006; Muller et al. 2010 | Relative of 615987.1... |
| 615987.1.07 | Lebanon | Male | Yes | Yes | Rod-cone dystrophy; Increased body ma... Rod-cone dystrophy; Increased body mass index; Hand polydactyly; Foot polydactyly; Cognitive impairment; | NM_024685.4:c.931T>G | Homozygous | Autosomal, Recessive | Stoetzel et al. 2006; Laurier et al, 2006; Muller et al. 2010 | Brother of 615987.1.... |
| 615987.1.08 | Lebanon | Male | Yes | No | Deceased Deceased | NM_024685.4:c.931T>G | Homozygous | Autosomal, Recessive | Stoetzel et al. 2006; Laurier et al, 2006; Muller et al. 2010 | Relative of 615987.1... |
| 615987.1.09 | Lebanon | Male | Yes | No | Truncal obesity; Intellectual disability... Truncal obesity; Intellectual disability; Retinal degeneration; Polydactyly; Hypoplastic male external genitalia | NM_024685.4:c.931T>G | Homozygous | Autosomal, Recessive | Stoetzel et al. 2006; Laurier et al, 2006; Muller et al. 2010 | Brother of 615987.1.... |
| 615987.1.10 | Lebanon | Male | Yes | No | Truncal obesity; Retinal degeneration; P... Truncal obesity; Retinal degeneration; Polydactyly; Intellectual disability; Hypoplastic male external genitalia | NM_024685.4:c.931T>G | Homozygous | Autosomal, Recessive | Stoetzel et al. 2006; Laurier et al, 2006; Muller et al. 2010 | Brother of 615987.1.... |
| 615987.1.11 | Lebanon | Female | Yes | Yes | Rod-cone dystrophy; Increased body m... Rod-cone dystrophy; Increased body mass index; Hand polydactyly; Foot polydactyly; Cognitive impairment; | NM_024685.4:c.931T>G | Homozygous | Autosomal, Recessive | Stoetzel et al. 2006; Laurier et al, 2006 | Relative of 615987.1... |
| 615987.1.12 | Lebanon | Female | Yes | Yes | Rod-cone dystrophy; Increased body... Rod-cone dystrophy; Increased body mass index; Hand polydactyly; Foot polydactyly; Cognitive impairment; | NM_024685.4:c.931T>G | Homozygous | Autosomal, Recessive | Stoetzel et al. 2006; Laurier et al, 2006 | Sister of 615987.1.1... |
| 615987.2.01 | Oman | Female | Yes | Yes | Nyctalopia; Visual impairment; Re... 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 | NM_024685.4:c.728_731del | Homozygous | Autosomal, Recessive | White et al. 2007 | Proband |
| 615987.2.02 | Oman | Male | Yes | Yes | Nyctalopia; Retinal vascular malforma... Nyctalopia; Retinal vascular malformation; Abnormality of retinal pigmentation; Astigmatism; Hypermetropia; Truncal obesity; Round face; Polydactyly; Syndactyly; Brachydactyly; Motor delay; Delayed speech and language development | NM_024685.4:c.728_731del | Homozygous | Autosomal, Recessive | White et al. 2007 | Relative of 615987.2... |
| 615987.2.03 | Oman | Male | Yes | Yes | Nyctalopia; Visual impairment ; Re... 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 | NM_024685.4:c.728_731del | Homozygous | Autosomal, Recessive | White et al. 2007 | Relative of 615987.2... |
| 615987.2.04 | Oman | Male | Yes | Yes | Nyctalopia; Visual impairment ; ... Nyctalopia; Visual impairment ; Retinal vascular malformation; Abnormality of retinal pigmentation; Myopic astigmatism; Truncal obesity; Polydactyly; Brachydactyly ; Micropenis; Motor delay; Delayed speech and language development | NM_024685.4:c.728_731del | Homozygous | Autosomal, Recessive | White et al. 2007 | Relative of 615987.2... |
| 615987.3.1 | Oman | Unknown | Yes | Yes | Bardet-Biedl syndrome Bardet-Biedl syndrome | NM_024685.4:c.1091del | Homozygous | Autosomal, Recessive | White et al. 2007 | Proband of an affect... |
| 615987.4 | Saudi Arabia | Female | No | Yes | Obesity; Rod-cone dystrophy; Polydactyly... Obesity; Rod-cone dystrophy; Polydactyly; Round face | NM_024685.4:c.1365T>G | Heterozygous, Homozygous | Autosomal, Recessive | Abu-Safieh et al. 2012 | "BBS-F011-A" in the ... |
| 615987.5 | Saudi Arabia | Male | No | Yes | Obesity; Intellectual disability; Rod-co... Obesity; Intellectual disability; Rod-cone dystrophy; Polydactyly; Round face; External genital hypoplasia | NM_024685.4:c.1889_1893del | Heterozygous, Homozygous | Autosomal, Recessive | Abu-Safieh et al. 2012 | "BBS-F023-A" in the ... |
| 615987.6.1 | Saudi Arabia | Female | Yes | Yes | Obesity; Abnormality of the kidney; Rod-... Obesity; Abnormality of the kidney; Rod-cone dystrophy; Polydactyly; Intellectual disability; Hydrometrocolpos | NM_024685.4:c.728_731del | Heterozygous, Homozygous | Autosomal, Recessive | Stoetzel et al. 2006; Abu-Safieh et al. 2012 | "BBS-F029-A" in the ... |
| 615987.6.2 | Saudi Arabia | Male | Yes | Yes | Obesity; Abnormality of the kidney; Rod-... Obesity; Abnormality of the kidney; Rod-cone dystrophy; Polydactyly; Intellectual disability; Hydrometrocolpos; External genital hypoplasia | NM_024685.4:c.728_731del | Heterozygous, Homozygous | Autosomal, Recessive | Stoetzel et al. 2006; Abu-Safieh et al. 2012 | Sibling of 615987.6.... |
| 615987.6.3 | Saudi Arabia | Male | Yes | Yes | Obesity; Abnormality of the kidney; Rod-... Obesity; Abnormality of the kidney; Rod-cone dystrophy; Polydactyly; Intellectual disability; Hydrometrocolpos; External genital hypoplasia | NM_024685.4:c.728_731del | Heterozygous, Homozygous | Autosomal, Recessive | Stoetzel et al. 2006; Abu-Safieh et al. 2012 | Sibling of 615987.6.... |
| 615987.7.1 | Saudi Arabia | Female | Yes | Yes | Obesity; Intellectual disability; Chroni... Obesity; Intellectual disability; Chronic kidney disease; Sectoral retinitis pigmentosa; Amenorrhea | NM_024685.3:c.1736A>G | Homozygous | Autosomal, Recessive | Aldahmesh et al. 2014 | |
| 615987.7.2 | Saudi Arabia | Male | Yes | Yes | Obesity; Intellectual disability; Sector... Obesity; Intellectual disability; Sectoral retinitis pigmentosa; Polydactyly; Hearing impairment; Abnormal facial shape; Abnormal left ventricle morphology; Abnormality of the genital system | NM_024685.3:c.1736A>G | Homozygous | Autosomal, Recessive | Aldahmesh et al. 2014 | Sibling of 615987.7.... |
| 615987.G.1 | Oman | Unknown | Yes | Yes | Bardet-Biedl syndrome Bardet-Biedl syndrome | NM_024685.4:c.271dup | Homozygous | Autosomal, Recessive | White et al. 2007 | Unknown number of af... |
| 615987.G.2.1 | Lebanon | Unknown | No | Retinal dystrophy; Abnormality of the ... Retinal dystrophy; Abnormality of the kidney; Obesity; Abnormal digit morphology | NM_024685.4:c.724del | Homozygous | Autosomal, Recessive | Stoetzel et al. 2006 | Unknown number of pa... | |
| 615987.G.2.2 | Tunisia | Unknown | No | Retinal dystrophy; Abnormality of the... Retinal dystrophy; Abnormality of the kidney; Obesity; Abnormal digit morphology | NM_024685.4:c.509T>C | Homozygous | Autosomal, Recessive | Stoetzel et al. 2006 | Unknown number of pa... |