Bardet-Biedl Syndrome 2

Alternative Names

  • BBS2

Associated Genes

BBS2 Gene
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

615981

Mode of Inheritance

Autosomal recessive

Gene Map Locus

16q13

Description

BBS2 is an autosomal recessive ciliopathy characterized by retinal degeneration, polydactyly, renal disease, hypogonadism, obesity, dysmorphic features, and variable degrees of cognitive impairment. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
615981.1.1LebanonFemaleYesYes Rod-cone dystrophy; Increased body mas...NM_031885.4:c.416G>THomozygousAutosomal, RecessiveLaurier et al, 2006; Muller et al. 2010 She belongs to the s...
615981.1.2LebanonFemaleYesYes Rod-cone dystrophy; Increased body mas...NM_031885.4:c.416G>THomozygousAutosomal, RecessiveLaurier et al, 2006; Muller et al. 2010 Sister of 615981.1.1
615981.2TunisiaUnknownNoYes Retinal dystrophy; Abnormality of the k...NM_031885.4:c.565C>THomozygousAutosomal, RecessiveSmaoui et al. 2006 Patient from family ...
615981.3TunisiaUnknownNoYes Retinal dystrophy; Abnormality of the ...NM_031885.4:c.565C>THomozygousAutosomal, RecessiveSmaoui et al. 2006 Patient from family ...
615981.4United Arab EmiratesMaleYesYes Obesity; Rod-cone dystrophy; PolydactylyNM_031885.5:c.1015C>THomozygousAutosomal, RecessiveKhan. 2020
615981.5Saudi ArabiaMaleNoYes Obesity; Specific learning disability; R...NM_031885.5:c.1207C>THomozygousAutosomal, RecessiveAbu-Safieh et al. 2012 "BBS-F024-A" in the ...
615981.6Saudi ArabiaUnknownNo Retinal dystrophyNM_031885.5:c.508G>AHomozygousAutosomal, RecessivePatel et al. 2016
615981.7Saudi ArabiaUnknownNo Retinal dystrophyNM_031885.5:c.700C>THomozygousAutosomal, RecessivePatel et al. 2016
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