Bardet-Biedl Syndrome 10

Alternative Names

  • BBS10

Associated Genes

BBS10 Gene
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

615987

Mode of Inheritance

Autosomal recessive

Gene Map Locus

12q21.2

Description

BBS10 is characterized by progressive retinal dystrophy, obesity, polydactyly, cognitive impairment, and renal dysplasia. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
615987.1.01LebanonMaleYesNo Rod-cone dystrophy; Hand polydactyly...NM_024685.4:c.931T>G, NM_024685.4:c.32T>GHeterozygousAutosomal, RecessiveStoetzel et al. 2006; Laurier et al, 2006; Muller et al. 2010 He belongs to the sa...
615987.1.02LebanonMaleYesYes DeceasedNM_024685.4:c.931T>GHomozygousAutosomal, RecessiveStoetzel et al. 2006; Laurier et al, 2006; Muller et al. 2010 Relative of 615987.1...
615987.1.03LebanonFemaleYesYes Rod-cone dystrophy; Cognitive impair...NM_024685.4:c.931T>GHomozygousAutosomal, RecessiveStoetzel et al. 2006; Laurier et al, 2006; Muller et al. 2010 Sister of 615987.1.0...
615987.1.04LebanonFemaleYesYes Rod-cone dystrophy; Hand polydactyly; ...NM_024685.4:c.931T>GHomozygousAutosomal, RecessiveStoetzel et al. 2006; Laurier et al, 2006; Muller et al. 2010 Sister of 615987.1.0...
615987.1.05LebanonFemaleYesYes DeceasedNM_024685.4:c.931T>GHomozygousAutosomal, RecessiveStoetzel et al. 2006; Laurier et al, 2006; Muller et al. 2010 Sister of 615987.1.0...
615987.1.06LebanonFemaleYesYes Rod-cone dystrophy; Foot polydactyly...NM_024685.4:c.931T>GHomozygousAutosomal, RecessiveStoetzel et al. 2006; Laurier et al, 2006; Muller et al. 2010 Relative of 615987.1...
615987.1.07LebanonMaleYesYes Rod-cone dystrophy; Increased body ma...NM_024685.4:c.931T>GHomozygousAutosomal, RecessiveStoetzel et al. 2006; Laurier et al, 2006; Muller et al. 2010 Brother of 615987.1....
615987.1.08LebanonMaleYesNo DeceasedNM_024685.4:c.931T>GHomozygousAutosomal, RecessiveStoetzel et al. 2006; Laurier et al, 2006; Muller et al. 2010 Relative of 615987.1...
615987.1.09LebanonMaleYesNo Truncal obesity; Intellectual disability...NM_024685.4:c.931T>GHomozygousAutosomal, RecessiveStoetzel et al. 2006; Laurier et al, 2006; Muller et al. 2010 Brother of 615987.1....
615987.1.10LebanonMaleYesNo Truncal obesity; Retinal degeneration; P...NM_024685.4:c.931T>GHomozygousAutosomal, RecessiveStoetzel et al. 2006; Laurier et al, 2006; Muller et al. 2010 Brother of 615987.1....
615987.1.11LebanonFemaleYesYes Rod-cone dystrophy; Increased body m...NM_024685.4:c.931T>GHomozygousAutosomal, RecessiveStoetzel et al. 2006; Laurier et al, 2006 Relative of 615987.1...
615987.1.12LebanonFemaleYesYes Rod-cone dystrophy; Increased body...NM_024685.4:c.931T>GHomozygousAutosomal, RecessiveStoetzel et al. 2006; Laurier et al, 2006 Sister of 615987.1.1...
615987.2.01OmanFemaleYesYes Nyctalopia; Visual impairment; Re...NM_024685.4:c.728_731delHomozygousAutosomal, RecessiveWhite et al. 2007 Proband
615987.2.02OmanMaleYesYes Nyctalopia; Retinal vascular malforma...NM_024685.4:c.728_731delHomozygousAutosomal, RecessiveWhite et al. 2007 Relative of 615987.2...
615987.2.03OmanMaleYesYes Nyctalopia; Visual impairment ; Re...NM_024685.4:c.728_731delHomozygousAutosomal, RecessiveWhite et al. 2007 Relative of 615987.2...
615987.2.04OmanMaleYesYes Nyctalopia; Visual impairment ; ...NM_024685.4:c.728_731delHomozygousAutosomal, RecessiveWhite et al. 2007 Relative of 615987.2...
615987.3.1OmanUnknownYesYes Bardet-Biedl syndromeNM_024685.4:c.1091delHomozygousAutosomal, RecessiveWhite et al. 2007 Proband of an affect...
615987.4Saudi ArabiaFemaleNoYes Obesity; Rod-cone dystrophy; Polydactyly...NM_024685.4:c.1365T>GHeterozygous, HomozygousAutosomal, RecessiveAbu-Safieh et al. 2012 "BBS-F011-A" in the ...
615987.5Saudi ArabiaMaleNoYes Obesity; Intellectual disability; Rod-co...NM_024685.4:c.1889_1893delHeterozygous, HomozygousAutosomal, RecessiveAbu-Safieh et al. 2012 "BBS-F023-A" in the ...
615987.6.1Saudi ArabiaFemaleYesYes Obesity; Abnormality of the kidney; Rod-...NM_024685.4:c.728_731delHeterozygous, HomozygousAutosomal, RecessiveStoetzel et al. 2006; Abu-Safieh et al. 2012 "BBS-F029-A" in the ...
615987.6.2Saudi ArabiaMaleYesYes Obesity; Abnormality of the kidney; Rod-...NM_024685.4:c.728_731delHeterozygous, HomozygousAutosomal, RecessiveStoetzel et al. 2006; Abu-Safieh et al. 2012 Sibling of 615987.6....
615987.6.3Saudi ArabiaMaleYesYes Obesity; Abnormality of the kidney; Rod-...NM_024685.4:c.728_731delHeterozygous, HomozygousAutosomal, RecessiveStoetzel et al. 2006; Abu-Safieh et al. 2012 Sibling of 615987.6....
615987.7.1Saudi ArabiaFemaleYesYes Obesity; Intellectual disability; Chroni...NM_024685.3:c.1736A>GHomozygousAutosomal, RecessiveAldahmesh et al. 2014
615987.7.2Saudi ArabiaMaleYesYes Obesity; Intellectual disability; Sector...NM_024685.3:c.1736A>GHomozygousAutosomal, RecessiveAldahmesh et al. 2014 Sibling of 615987.7....
615987.8Saudi ArabiaUnknownNo Retinal dystrophyNM_024685.4:c.728_731del, NM_024685.4:c.1892_1896delCompound heterozygousAutosomal, RecessivePatel et al. 2016
615987.G.1OmanUnknownYesYes Bardet-Biedl syndromeNM_024685.4:c.271dupHomozygousAutosomal, RecessiveWhite et al. 2007 Unknown number of af...
615987.G.2.1LebanonUnknownNo Retinal dystrophy; Abnormality of the ...NM_024685.4:c.724delHomozygousAutosomal, RecessiveStoetzel et al. 2006 Unknown number of pa...
615987.G.2.2TunisiaUnknownNo Retinal dystrophy; Abnormality of the...NM_024685.4:c.509T>CHomozygousAutosomal, RecessiveStoetzel et al. 2006 Unknown number of pa...
615987.G.3Saudi ArabiaUnknownNo Retinal dystrophyNM_024685.4:c.1892_1896delHomozygousAutosomal, RecessivePatel et al. 2016 Family with unknown ...
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