Bardet-Biedl Syndrome 4

Alternative Names

  • BBS4

Associated Genes

BBS4 Gene
Back to search Result
WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

615982

Mode of Inheritance

Autosomal recessive

Gene Map Locus

15q24.1

Description

BBS4 is a rare multisystemic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, and renal dysfunction that accounts for less than 3% of BBS. Anosmia has been described in patients with BBS4, as well as polydactyly confined to the hands. [From OMIM]

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
615982.1.1IraqFemaleYesYes Intellectual disability; Polydactyly; Ob...NM_033028.5:c.157-3C>GHomozygousAutosomal, RecessiveMakrythanasis et al. 2014
615982.1.2IraqMaleYesYes Intellectual disability; Polydactyly; Ob...NM_033028.5:c.157-3C>GHomozygousAutosomal, RecessiveMakrythanasis et al. 2014 Brother of 615982.1....
615982.1.3IraqMaleYesYes Intellectual disability; Polydactyly; Ob...NM_033028.5:c.157-3C>GHomozygousAutosomal, RecessiveMakrythanasis et al. 2014 Brother of 615982.1....
615982.2.1Saudi ArabiaMaleYesYes Obesity; Intellectual disability; Rod-co...NM_033028.4:c.157-2A>GHomozygousAutosomal, RecessiveAbu-Safieh et al. 2012; Abu Safieh et al. 2010 "BBS-F005-A" in the ...
615982.2.2Saudi ArabiaMaleYesYes Obesity; Intellectual disability; Rod-co...NM_033028.4:c.157-2A>GHomozygousAutosomal, RecessiveAbu-Safieh et al. 2012; Abu Safieh et al. 2010 Sibling of 615982.2....
615982.3Saudi ArabiaMaleNoYes Obesity; Intellectual disability; Abnorm...NM_033028.4:c.157-2A>GHeterozygous, HomozygousAutosomal, RecessiveAbu-Safieh et al. 2012; Abu Safieh et al. 2010 "BBS-F013-A" in the ...
615982.4Saudi ArabiaMaleNoYes Obesity; Intellectual disability; Rod-co...NM_033028.4:c.157-2A>GHeterozygous, HomozygousAutosomal, RecessiveAbu-Safieh et al. 2012; Abu Safieh et al. 2010 "BBS-F017-A" in the ...
615982.5.1Saudi ArabiaMaleYesYes Obesity; Rod-cone dystrophy; Polydactyly...NM_033028.4:c.157-2A>GHeterozygous, HomozygousAutosomal, RecessiveAbu-Safieh et al. 2012; Abu Safieh et al. 2010 "BBS-arRP-F026-A" in...
615982.5.2Saudi ArabiaMaleYesYes Obesity; Rod-cone dystrophy; Polydactyly...NM_033028.4:c.157-2A>GHeterozygous, HomozygousAutosomal, RecessiveAbu-Safieh et al. 2012; Abu Safieh et al. 2010 Sibling of 615982.5....
615982.5.3Saudi ArabiaMaleYesYes Obesity; Rod-cone dystrophy; Polydactyly...NM_033028.4:c.157-2A>GHeterozygous, HomozygousAutosomal, RecessiveAbu-Safieh et al. 2012; Abu Safieh et al. 2010 Sibling of 615982.5....
615982.5.4Saudi ArabiaMaleYesYes Obesity; Rod-cone dystrophy; Polydactyly...NM_033028.4:c.157-2A>GHeterozygous, HomozygousAutosomal, RecessiveAbu-Safieh et al. 2012; Abu Safieh et al. 2010 Sibling of 615982.5....
615982.6Saudi ArabiaMaleNoYes Obesity; Intellectual disability; Rod-co...NM_033028.5:c.1180C>THeterozygous, HomozygousAutosomal, RecessiveAbu-Safieh et al. 2012 "BBS-F031-A" in the ...
615982.G.1Saudi ArabiaUnknownNo Retinal dystrophyNM_033028.4:c.157-2A>GHomozygousAutosomal, RecessivePatel et al. 2016 Family with unknown ...
615982.G.2Saudi ArabiaUnknownNo Retinal dystrophyNM_033028.5:c.1091C>AHomozygousAutosomal, RecessivePatel et al. 2016 Family with unknown ...
© CAGS 2024. All rights reserved.